Variant ID: 1-45796882-GGTG-G

NM_012222.2(MUTYH):c.1438_1440del;(p.Thr480del)

This variant was identified in 5 publications




Publications:


Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Cancers
E Dámaso, M González-Acosta, G Vargas-Parra, M Navarro, J Balmaña, T Ramon Y Cajal, N Tuset, BA Thompson, F Marín, A Fernández, C Gómez, À Velasco, A Solanes, S Iglesias, G Urgel, C López, J Del Valle, O Campos, M Santacana, X Matias-Guiu, C Lázaro, L Valle, J Brunet, M Pineda, G Capellá
Publication Date: 2020-07-05

Variant appearance in text: MUTYH: 1437_1439del; Glu480del
PubMed Link: 32635641
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
AS Brohl, R Patidar, CE Turner, X Wen, YK Song, JS Wei, KA Calzone, J Khan
Publication Date: 2017-08

Variant appearance in text: MUTYH: 1437_1439del
PubMed Link: 28125078
Variant Present in the following documents:
  • NIHMS837744-supplement-Supplementary__Figure_and_Tables.pdf
View BVdb publication page



The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.

The Application Of Clinical Genetics
ML Leoz, S Carballal, L Moreira, T Ocaña, F Balaguer
Publication Date: 2015

Variant appearance in text: MUTYH: 1437_1439del; E480del
PubMed Link: 25931827
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic predisposition to colorectal cancer: where we stand and future perspectives.

World Journal Of Gastroenterology
L Valle
Publication Date: 2014-08-07

Variant appearance in text: MUTYH: 1437_1439del; Glu480del
PubMed Link: 25110415
Variant Present in the following documents:
  • Main text
View BVdb publication page



The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

European Journal Of Human Genetics : Ejhg
CT Kwok, IP Vogelaar, WA van Zelst-Stams, AR Mensenkamp, MJ Ligtenberg, RW Rapkins, RL Ward, N Chun, JM Ford, U Ladabaum, WC McKinnon, MS Greenblatt, MP Hitchins
Publication Date: 2014-05

Variant appearance in text: MUTYH: 1437_1439del; E480del
PubMed Link: 24084575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.1364_1366del p.His455_Thr456delinsPro inframe_deletion 14/16 -
ENST00000355498.2 c.1361_1363del p.His454_Thr455delinsPro inframe_deletion 14/16 -
ENST00000372098.3 c.1436_1438del p.His479_Thr480delinsPro inframe_deletion 14/16 -
ENST00000372100.5 c.1394_1396del p.His465_Thr466delinsPro inframe_deletion 14/16 -
ENST00000372104.1 c.1361_1363del p.His454_Thr455delinsPro inframe_deletion 15/17 -
ENST00000372110.3 c.1406_1408del p.His469_Thr470delinsPro inframe_deletion 14/16 -
ENST00000372115.3 c.1403_1405del p.His468_Thr469delinsPro inframe_deletion 14/16 -
ENST00000448481.1 c.1394_1396del p.His465_Thr466delinsPro inframe_deletion 14/16 -
ENST00000450313.1 c.1445_1447del p.His482_Thr483delinsPro inframe_deletion 14/16 -
ENST00000456914.2 c.1361_1363del p.His454_Thr455delinsPro inframe_deletion 14/16 -
ENST00000467459.1 c.*223_*225del - 3_prime_UTR_variant,NMD_transcript_variant 6/8 -
ENST00000475516.1 c.*1174_*1176del - 3_prime_UTR_variant,NMD_transcript_variant 14/16 -
ENST00000481571.1 c.*1174_*1176del - 3_prime_UTR_variant,NMD_transcript_variant 14/16 -
ENST00000482094.1 n.682_684del - non_coding_transcript_exon_variant 3/5 -
ENST00000485271.1 c.58_60del p.His20_Thr21delinsPro inframe_deletion,NMD_transcript_variant 1/4 -
ENST00000488731.2 c.446_448del p.His149_Thr150delinsPro inframe_deletion 5/7 -
ENST00000528013.2 c.1403_1405del p.His468_Thr469delinsPro inframe_deletion 14/16 -
ENST00000528332.2 c.488_490del p.His163_Thr164delinsPro inframe_deletion 5/7 -
ENST00000529892.1 c.436_438del p.His146_Thr147delinsPro inframe_deletion 4/6 -
ENST00000529984.1 c.446_448del p.His149_Thr150delinsPro inframe_deletion 5/7 -
ENST00000531105.1 c.116-1775_116-1773del - intron_variant - 2/2
ENST00000533178.1 c.*690_*692del - 3_prime_UTR_variant,NMD_transcript_variant 8/10 -
NM_001048171.1 c.1403_1405del p.His468_Thr469delinsPro inframe_deletion 14/16 -
NM_001048172.1 c.1364_1366del p.His455_Thr456delinsPro inframe_deletion 14/16 -
NM_001048173.1 c.1361_1363del p.His454_Thr455delinsPro inframe_deletion 14/16 -
NM_001048174.1 c.1361_1363del p.His454_Thr455delinsPro inframe_deletion 14/16 -
NM_001128425.1 c.1445_1447del p.His482_Thr483delinsPro inframe_deletion 14/16 -
NM_001293190.1 c.1406_1408del p.His469_Thr470delinsPro inframe_deletion 14/16 -
NM_001293191.1 c.1394_1396del p.His465_Thr466delinsPro inframe_deletion 14/16 -
NM_001293192.1 c.1085_1087del p.His362_Thr363delinsPro inframe_deletion 14/16 -
NM_001293195.1 c.1361_1363del p.His454_Thr455delinsPro inframe_deletion 15/17 -
NM_001293196.1 c.1085_1087del p.His362_Thr363delinsPro inframe_deletion 14/16 -
NM_001350650.1 c.1016_1018del p.His339_Thr340delinsPro inframe_deletion 13/15 -
NM_001350651.1 c.1016_1018del p.His339_Thr340delinsPro inframe_deletion 13/15 -
NM_012222.2 c.1436_1438del p.His479_Thr480delinsPro inframe_deletion 14/16 -
NR_146882.1 n.1619_1621del - non_coding_transcript_exon_variant 14/17 -
NR_146883.1 n.1433_1435del - non_coding_transcript_exon_variant 13/16 -