Variant ID: 1-45797489-G-A

NM_012222.2(MUTYH):c.1021C>T;(p.Pro341Ser)

This variant was identified in 1 publication




Publications:


Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology
SP MacFarland, K Zelley, LF Surrey, D Gallo, M Luo, P Raman, G Wertheim, SP Hunger, MM Li, GM Brodeur
Publication Date: 2019

Variant appearance in text: MUTYH: 1021C>T
PubMed Link: 32783018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.949C>T p.Pro317Ser missense_variant 12/16 -
ENST00000355498.2 c.946C>T p.Pro316Ser missense_variant 12/16 -
ENST00000372098.3 c.1021C>T p.Pro341Ser missense_variant 12/16 -
ENST00000372100.5 c.979C>T p.Pro327Ser missense_variant 12/16 -
ENST00000372104.1 c.946C>T p.Pro316Ser missense_variant 13/17 -
ENST00000372110.3 c.991C>T p.Pro331Ser missense_variant 12/16 -
ENST00000372115.3 c.988C>T p.Pro330Ser missense_variant 12/16 -
ENST00000412971.1 c.562C>T p.Pro188Ser missense_variant 7/7 -
ENST00000448481.1 c.979C>T p.Pro327Ser missense_variant 12/16 -
ENST00000450313.1 c.1030C>T p.Pro344Ser missense_variant 12/16 -
ENST00000456914.2 c.946C>T p.Pro316Ser missense_variant 12/16 -
ENST00000462388.1 n.810C>T - non_coding_transcript_exon_variant 5/5 -
ENST00000466231.1 n.311C>T - non_coding_transcript_exon_variant 3/3 -
ENST00000467459.1 c.363C>T p.Cys121= synonymous_variant,NMD_transcript_variant 4/8 -
ENST00000475516.1 c.*759C>T - 3_prime_UTR_variant,NMD_transcript_variant 12/16 -
ENST00000481571.1 c.*759C>T - 3_prime_UTR_variant,NMD_transcript_variant 12/16 -
ENST00000482094.1 n.267C>T - non_coding_transcript_exon_variant 1/5 -
ENST00000488731.2 c.188-261C>T - intron_variant - 3/6
ENST00000528013.2 c.988C>T p.Pro330Ser missense_variant 12/16 -
ENST00000528332.2 c.230-261C>T - intron_variant - 3/6
ENST00000529892.1 c.177+206C>T - intron_variant - 2/5
ENST00000529984.1 c.188-261C>T - intron_variant - 3/6
ENST00000531105.1 c.116-2380C>T - intron_variant - 2/2
ENST00000533178.1 c.*275C>T - 3_prime_UTR_variant,NMD_transcript_variant 6/10 -
NM_001048171.1 c.988C>T p.Pro330Ser missense_variant 12/16 -
NM_001048172.1 c.949C>T p.Pro317Ser missense_variant 12/16 -
NM_001048173.1 c.946C>T p.Pro316Ser missense_variant 12/16 -
NM_001048174.1 c.946C>T p.Pro316Ser missense_variant 12/16 -
NM_001128425.1 c.1030C>T p.Pro344Ser missense_variant 12/16 -
NM_001293190.1 c.991C>T p.Pro331Ser missense_variant 12/16 -
NM_001293191.1 c.979C>T p.Pro327Ser missense_variant 12/16 -
NM_001293192.1 c.670C>T p.Pro224Ser missense_variant 12/16 -
NM_001293195.1 c.946C>T p.Pro316Ser missense_variant 13/17 -
NM_001293196.1 c.670C>T p.Pro224Ser missense_variant 12/16 -
NM_001350650.1 c.601C>T p.Pro201Ser missense_variant 11/15 -
NM_001350651.1 c.601C>T p.Pro201Ser missense_variant 11/15 -
NM_012222.2 c.1021C>T p.Pro341Ser missense_variant 12/16 -
NR_146882.1 n.1204C>T - non_coding_transcript_exon_variant 12/17 -
NR_146883.1 n.1018C>T - non_coding_transcript_exon_variant 11/16 -