Variant ID: 1-45795063-G-A

NM_012222.2(MUTYH):c.1556C>T;(p.Pro519Leu)

This variant was identified in 1 publication




Publications:


Inherited DNA-Repair Defects in Colorectal Cancer.

American Journal Of Human Genetics
SH AlDubayan, M Giannakis, ND Moore, GC Han, B Reardon, T Hamada, XJ Mu, R Nishihara, Z Qian, L Liu, MB Yurgelun, S Syngal, LA Garraway, S Ogino, CS Fuchs, EM Van Allen
Publication Date: 2018-03-01

Variant appearance in text: MUTYH: 1556C>T
PubMed Link: 29478780
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.1484C>T p.Pro495Leu missense_variant 16/16 -
ENST00000355498.2 c.1481C>T p.Pro494Leu missense_variant 16/16 -
ENST00000372098.3 c.1556C>T p.Pro519Leu missense_variant 16/16 -
ENST00000372100.5 c.1514C>T p.Pro505Leu missense_variant 16/16 -
ENST00000372104.1 c.1481C>T p.Pro494Leu missense_variant 17/17 -
ENST00000372110.3 c.1526C>T p.Pro509Leu missense_variant 16/16 -
ENST00000372115.3 c.1523C>T p.Pro508Leu missense_variant 16/16 -
ENST00000448481.1 c.1514C>T p.Pro505Leu missense_variant 16/16 -
ENST00000450313.1 c.1565C>T p.Pro522Leu missense_variant 16/16 -
ENST00000456914.2 c.1481C>T p.Pro494Leu missense_variant 16/16 -
ENST00000467459.1 c.*343C>T - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000475516.1 c.*1294C>T - 3_prime_UTR_variant,NMD_transcript_variant 16/16 -
ENST00000481571.1 c.*1294C>T - 3_prime_UTR_variant,NMD_transcript_variant 16/16 -
ENST00000482094.1 n.802C>T - non_coding_transcript_exon_variant 5/5 -
ENST00000485271.1 c.*224C>T - 3_prime_UTR_variant,NMD_transcript_variant 4/4 -
ENST00000488731.2 c.566C>T p.Pro189Leu missense_variant 7/7 -
ENST00000528013.2 c.1523C>T p.Pro508Leu missense_variant 16/16 -
ENST00000528332.2 c.608C>T p.Pro203Leu missense_variant 7/7 -
ENST00000529892.1 c.557C>T p.Pro186Leu missense_variant 6/6 -
ENST00000529984.1 c.566C>T p.Pro189Leu missense_variant 7/7 -
ENST00000531105.1 c.162C>T p.Ala54= synonymous_variant 3/3 -
ENST00000533178.1 c.*810C>T - 3_prime_UTR_variant,NMD_transcript_variant 10/10 -
NM_001048171.1 c.1523C>T p.Pro508Leu missense_variant 16/16 -
NM_001048172.1 c.1484C>T p.Pro495Leu missense_variant 16/16 -
NM_001048173.1 c.1481C>T p.Pro494Leu missense_variant 16/16 -
NM_001048174.1 c.1481C>T p.Pro494Leu missense_variant 16/16 -
NM_001128425.1 c.1565C>T p.Pro522Leu missense_variant 16/16 -
NM_001293190.1 c.1526C>T p.Pro509Leu missense_variant 16/16 -
NM_001293191.1 c.1514C>T p.Pro505Leu missense_variant 16/16 -
NM_001293192.1 c.1205C>T p.Pro402Leu missense_variant 16/16 -
NM_001293195.1 c.1481C>T p.Pro494Leu missense_variant 17/17 -
NM_001293196.1 c.1205C>T p.Pro402Leu missense_variant 16/16 -
NM_001350650.1 c.1136C>T p.Pro379Leu missense_variant 15/15 -
NM_001350651.1 c.1136C>T p.Pro379Leu missense_variant 15/15 -
NM_012222.2 c.1556C>T p.Pro519Leu missense_variant 16/16 -
NR_146882.1 n.1919C>T - non_coding_transcript_exon_variant 17/17 -
NR_146883.1 n.1733C>T - non_coding_transcript_exon_variant 16/16 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -