Variant ID: 1-45797852-G-A

NM_012222.2(MUTYH):c.910C>T;(p.Arg304Trp)

This variant was identified in 1 publication




Publications:


Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Frontiers In Oncology
P Rizzolo, V Silvestri, A Bucalo, V Zelli, V Valentini, I Catucci, I Zanna, G Masala, S Bianchi, AM Spinelli, S Tommasi, MG Tibiletti, A Russo, L Varesco, A Coppa, D Calistri, L Cortesi, A Viel, B Bonanni, J Azzollini, S Manoukian, M Montagna, P Radice, D Palli, P Peterlongo, L Ottini
Publication Date: 2018

Variant appearance in text: rs759822330
PubMed Link: 30564557
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.838C>T p.Arg280Trp missense_variant 10/16 -
ENST00000355498.2 c.835C>T p.Arg279Trp missense_variant 10/16 -
ENST00000372098.3 c.910C>T p.Arg304Trp missense_variant 10/16 -
ENST00000372100.5 c.868C>T p.Arg290Trp missense_variant 10/16 -
ENST00000372104.1 c.835C>T p.Arg279Trp missense_variant 11/17 -
ENST00000372110.3 c.880C>T p.Arg294Trp missense_variant 10/16 -
ENST00000372115.3 c.877C>T p.Arg293Trp missense_variant 10/16 -
ENST00000412971.1 c.451C>T p.Arg151Trp missense_variant 5/7 -
ENST00000435155.1 c.868C>T p.Arg290Trp missense_variant 10/10 -
ENST00000448481.1 c.868C>T p.Arg290Trp missense_variant 10/16 -
ENST00000450313.1 c.919C>T p.Arg307Trp missense_variant 10/16 -
ENST00000456914.2 c.835C>T p.Arg279Trp missense_variant 10/16 -
ENST00000461495.1 c.*574C>T - 3_prime_UTR_variant,NMD_transcript_variant 9/10 -
ENST00000462388.1 n.526C>T - non_coding_transcript_exon_variant 4/5 -
ENST00000466231.1 n.200C>T - non_coding_transcript_exon_variant 1/3 -
ENST00000467459.1 c.229C>T p.Arg77Trp missense_variant,NMD_transcript_variant 2/8 -
ENST00000470256.1 c.*164C>T - 3_prime_UTR_variant,NMD_transcript_variant 8/9 -
ENST00000475516.1 c.*648C>T - 3_prime_UTR_variant,NMD_transcript_variant 10/16 -
ENST00000481571.1 c.*648C>T - 3_prime_UTR_variant,NMD_transcript_variant 10/16 -
ENST00000488731.2 c.187+583C>T - intron_variant - 3/6
ENST00000528013.2 c.877C>T p.Arg293Trp missense_variant 10/16 -
ENST00000528332.2 c.229+583C>T - intron_variant - 3/6
ENST00000529892.1 c.100C>T p.Arg34Trp missense_variant 1/6 -
ENST00000529984.1 c.187+583C>T - intron_variant - 3/6
ENST00000531105.1 c.115+2211C>T - intron_variant - 2/2
ENST00000533178.1 c.*164C>T - 3_prime_UTR_variant,NMD_transcript_variant 4/10 -
NM_001048171.1 c.877C>T p.Arg293Trp missense_variant 10/16 -
NM_001048172.1 c.838C>T p.Arg280Trp missense_variant 10/16 -
NM_001048173.1 c.835C>T p.Arg279Trp missense_variant 10/16 -
NM_001048174.1 c.835C>T p.Arg279Trp missense_variant 10/16 -
NM_001128425.1 c.919C>T p.Arg307Trp missense_variant 10/16 -
NM_001293190.1 c.880C>T p.Arg294Trp missense_variant 10/16 -
NM_001293191.1 c.868C>T p.Arg290Trp missense_variant 10/16 -
NM_001293192.1 c.559C>T p.Arg187Trp missense_variant 10/16 -
NM_001293195.1 c.835C>T p.Arg279Trp missense_variant 11/17 -
NM_001293196.1 c.559C>T p.Arg187Trp missense_variant 10/16 -
NM_001350650.1 c.490C>T p.Arg164Trp missense_variant 9/15 -
NM_001350651.1 c.490C>T p.Arg164Trp missense_variant 9/15 -
NM_012222.2 c.910C>T p.Arg304Trp missense_variant 10/16 -
NR_146882.1 n.1093C>T - non_coding_transcript_exon_variant 10/17 -
NR_146883.1 n.907C>T - non_coding_transcript_exon_variant 9/16 -