Variant ID: 1-45799092-C-T

NM_012222.2(MUTYH):c.332G>A;(p.Arg111Lys)

This variant was identified in 1 publication




Publications:


Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Hereditary Cancer In Clinical Practice
S Horpaopan, J Kirfel, S Peters, M Kloth, R Hüneburg, J Altmüller, D Drichel, M Odenthal, G Kristiansen, C Strassburg, J Nattermann, P Hoffmann, P Nürnberg, R Büttner, H Thiele, P Kahl, I Spier, S Aretz
Publication Date: 2017

Variant appearance in text: MUTYH: 332G>A; R111Q
PubMed Link: 29213343
Variant Present in the following documents:
  • 13053_2017_82_MOESM1_ESM.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.260G>A p.Arg87Lys missense_variant 3/16 -
ENST00000355498.2 c.257G>A p.Arg86Lys missense_variant 3/16 -
ENST00000372098.3 c.332G>A p.Arg111Lys missense_variant 3/16 -
ENST00000372100.5 c.290G>A p.Arg97Lys missense_variant 3/16 -
ENST00000372104.1 c.257G>A p.Arg86Lys missense_variant 4/17 -
ENST00000372110.3 c.302G>A p.Arg101Lys missense_variant 3/16 -
ENST00000372115.3 c.299G>A p.Arg100Lys missense_variant 3/16 -
ENST00000412971.1 c.37-586G>A - intron_variant - 1/6
ENST00000435155.1 c.290G>A p.Arg97Lys missense_variant 3/10 -
ENST00000448481.1 c.290G>A p.Arg97Lys missense_variant 3/16 -
ENST00000450313.1 c.341G>A p.Arg114Lys missense_variant 3/16 -
ENST00000456914.2 c.257G>A p.Arg86Lys missense_variant 3/16 -
ENST00000461495.1 c.*70G>A - 3_prime_UTR_variant,NMD_transcript_variant 3/10 -
ENST00000462387.1 n.336-96G>A - intron_variant,non_coding_transcript_variant - 2/2
ENST00000467940.1 c.*180G>A - 3_prime_UTR_variant,NMD_transcript_variant 3/10 -
ENST00000470256.1 c.260G>A p.Arg87Lys missense_variant,NMD_transcript_variant 3/9 -
ENST00000474703.1 n.412G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000475516.1 c.*70G>A - 3_prime_UTR_variant,NMD_transcript_variant 3/16 -
ENST00000476789.1 n.477G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000479746.2 n.320G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000481139.1 n.396G>A - non_coding_transcript_exon_variant 3/4 -
ENST00000481571.1 c.*70G>A - 3_prime_UTR_variant,NMD_transcript_variant 3/16 -
ENST00000483127.1 c.275G>A p.Arg92Lys missense_variant 4/4 -
ENST00000483642.1 n.438G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000485484.1 n.307G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000488731.2 c.116-586G>A - intron_variant - 2/6
ENST00000492494.1 n.320G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000525160.1 c.158-96G>A - intron_variant,NMD_transcript_variant - 2/6
ENST00000528013.2 c.299G>A p.Arg100Lys missense_variant 3/16 -
ENST00000528332.2 c.158-586G>A - intron_variant - 2/6
ENST00000529984.1 c.116-586G>A - intron_variant - 2/6
ENST00000531105.1 c.115+971G>A - intron_variant - 2/2
ENST00000533178.1 c.122-733G>A - intron_variant,NMD_transcript_variant - 1/9
NM_001048171.1 c.299G>A p.Arg100Lys missense_variant 3/16 -
NM_001048172.1 c.260G>A p.Arg87Lys missense_variant 3/16 -
NM_001048173.1 c.257G>A p.Arg86Lys missense_variant 3/16 -
NM_001048174.1 c.257G>A p.Arg86Lys missense_variant 3/16 -
NM_001128425.1 c.341G>A p.Arg114Lys missense_variant 3/16 -
NM_001293190.1 c.302G>A p.Arg101Lys missense_variant 3/16 -
NM_001293191.1 c.290G>A p.Arg97Lys missense_variant 3/16 -
NM_001293192.1 c.-20G>A - 5_prime_UTR_variant 3/16 -
NM_001293195.1 c.257G>A p.Arg86Lys missense_variant 4/17 -
NM_001293196.1 c.-20G>A - 5_prime_UTR_variant 3/16 -
NM_001350650.1 c.-15G>A - 5_prime_UTR_variant 3/15 -
NM_001350651.1 c.-15G>A - 5_prime_UTR_variant 3/15 -
NM_012222.2 c.332G>A p.Arg111Lys missense_variant 3/16 -
NR_146882.1 n.515G>A - non_coding_transcript_exon_variant 3/17 -
NR_146883.1 n.403G>A - non_coding_transcript_exon_variant 3/16 -