Variant ID: 1-45799124-C-CGTT

NM_012222.2(MUTYH):c.299_300insAAC;(p.Trp100delins*)

This variant was identified in 1 publication




Publications:


The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Annals Of Internal Medicine
JL Vassy, KD Christensen, EF Schonman, CL Blout, JO Robinson, JB Krier, PM Diamond, M Lebo, K Machini, DR Azzariti, D Dukhovny, DW Bates, CA MacRae, MF Murray, HL Rehm, AL McGuire, RC Green,
Publication Date: 2017-08-01

Variant appearance in text: MUTYH: 299_300insAAC
PubMed Link: 28654958
Variant Present in the following documents:
  • NIHMS947737-supplement-1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.227_228insAAC p.Trp76delins* stop_gained 3/16 -
ENST00000355498.2 c.224_225insAAC p.Trp75delins* stop_gained 3/16 -
ENST00000372098.3 c.299_300insAAC p.Trp100delins* stop_gained 3/16 -
ENST00000372100.5 c.257_258insAAC p.Trp86delins* stop_gained 3/16 -
ENST00000372104.1 c.224_225insAAC p.Trp75delins* stop_gained 4/17 -
ENST00000372110.3 c.269_270insAAC p.Trp90delins* stop_gained 3/16 -
ENST00000372115.3 c.266_267insAAC p.Trp89delins* stop_gained 3/16 -
ENST00000412971.1 c.37-619_37-618insAAC - intron_variant - 1/6
ENST00000435155.1 c.257_258insAAC p.Trp86delins* stop_gained 3/10 -
ENST00000448481.1 c.257_258insAAC p.Trp86delins* stop_gained 3/16 -
ENST00000450313.1 c.308_309insAAC p.Trp103delins* stop_gained 3/16 -
ENST00000456914.2 c.224_225insAAC p.Trp75delins* stop_gained 3/16 -
ENST00000461495.1 c.*37_*38insAAC - 3_prime_UTR_variant,NMD_transcript_variant 3/10 -
ENST00000462387.1 n.336-129_336-128insAAC - intron_variant,non_coding_transcript_variant - 2/2
ENST00000467940.1 c.*147_*148insAAC - 3_prime_UTR_variant,NMD_transcript_variant 3/10 -
ENST00000470256.1 c.227_228insAAC p.Trp76delins* stop_gained,NMD_transcript_variant 3/9 -
ENST00000474703.1 n.379_380insAAC - non_coding_transcript_exon_variant 3/5 -
ENST00000475516.1 c.*37_*38insAAC - 3_prime_UTR_variant,NMD_transcript_variant 3/16 -
ENST00000476789.1 n.444_445insAAC - non_coding_transcript_exon_variant 3/5 -
ENST00000479746.2 n.287_288insAAC - non_coding_transcript_exon_variant 3/5 -
ENST00000481139.1 n.363_364insAAC - non_coding_transcript_exon_variant 3/4 -
ENST00000481571.1 c.*37_*38insAAC - 3_prime_UTR_variant,NMD_transcript_variant 3/16 -
ENST00000483127.1 c.242_243insAAC p.Trp81delins* stop_gained 4/4 -
ENST00000483642.1 n.405_406insAAC - non_coding_transcript_exon_variant 3/5 -
ENST00000485484.1 n.274_275insAAC - non_coding_transcript_exon_variant 3/5 -
ENST00000488731.2 c.116-619_116-618insAAC - intron_variant - 2/6
ENST00000492494.1 n.287_288insAAC - non_coding_transcript_exon_variant 3/5 -
ENST00000525160.1 c.158-129_158-128insAAC - intron_variant,NMD_transcript_variant - 2/6
ENST00000528013.2 c.266_267insAAC p.Trp89delins* stop_gained 3/16 -
ENST00000528332.2 c.158-619_158-618insAAC - intron_variant - 2/6
ENST00000529984.1 c.116-619_116-618insAAC - intron_variant - 2/6
ENST00000531105.1 c.115+938_115+939insAAC - intron_variant - 2/2
ENST00000533178.1 c.122-766_122-765insAAC - intron_variant,NMD_transcript_variant - 1/9
NM_001048171.1 c.266_267insAAC p.Trp89delins* stop_gained 3/16 -
NM_001048172.1 c.227_228insAAC p.Trp76delins* stop_gained 3/16 -
NM_001048173.1 c.224_225insAAC p.Trp75delins* stop_gained 3/16 -
NM_001048174.1 c.224_225insAAC p.Trp75delins* stop_gained 3/16 -
NM_001128425.1 c.308_309insAAC p.Trp103delins* stop_gained 3/16 -
NM_001293190.1 c.269_270insAAC p.Trp90delins* stop_gained 3/16 -
NM_001293191.1 c.257_258insAAC p.Trp86delins* stop_gained 3/16 -
NM_001293192.1 c.-53_-52insAAC - 5_prime_UTR_variant 3/16 -
NM_001293195.1 c.224_225insAAC p.Trp75delins* stop_gained 4/17 -
NM_001293196.1 c.-53_-52insAAC - 5_prime_UTR_variant 3/16 -
NM_001350650.1 c.-48_-47insAAC - 5_prime_UTR_variant 3/15 -
NM_001350651.1 c.-48_-47insAAC - 5_prime_UTR_variant 3/15 -
NM_012222.2 c.299_300insAAC p.Trp100delins* stop_gained 3/16 -
NR_146882.1 n.482_483insAAC - non_coding_transcript_exon_variant 3/17 -
NR_146883.1 n.370_371insAAC - non_coding_transcript_exon_variant 3/16 -