Variant ID: 1-45797137-A-C

NM_012222.2(MUTYH):c.1269T>G;(p.Arg423Arg)

This variant was identified in 1 publication




Publications:


Base excision repair and the role of MUTYH.

Hereditary Cancer In Clinical Practice
C Kairupan, RJ Scott
Publication Date: 2007-12-15

Variant appearance in text: MUTYH: R423R
PubMed Link: 19725997
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.1197T>G p.Arg399= synonymous_variant 13/16 -
ENST00000355498.2 c.1194T>G p.Arg398= synonymous_variant 13/16 -
ENST00000372098.3 c.1269T>G p.Arg423= synonymous_variant 13/16 -
ENST00000372100.5 c.1227T>G p.Arg409= synonymous_variant 13/16 -
ENST00000372104.1 c.1194T>G p.Arg398= synonymous_variant 14/17 -
ENST00000372110.3 c.1239T>G p.Arg413= synonymous_variant 13/16 -
ENST00000372115.3 c.1236T>G p.Arg412= synonymous_variant 13/16 -
ENST00000448481.1 c.1227T>G p.Arg409= synonymous_variant 13/16 -
ENST00000450313.1 c.1278T>G p.Arg426= synonymous_variant 13/16 -
ENST00000456914.2 c.1194T>G p.Arg398= synonymous_variant 13/16 -
ENST00000467459.1 c.*56T>G - 3_prime_UTR_variant,NMD_transcript_variant 5/8 -
ENST00000475516.1 c.*1007T>G - 3_prime_UTR_variant,NMD_transcript_variant 13/16 -
ENST00000481571.1 c.*1007T>G - 3_prime_UTR_variant,NMD_transcript_variant 13/16 -
ENST00000482094.1 n.515T>G - non_coding_transcript_exon_variant 2/5 -
ENST00000488731.2 c.279T>G p.Arg93= synonymous_variant 4/7 -
ENST00000528013.2 c.1236T>G p.Arg412= synonymous_variant 13/16 -
ENST00000528332.2 c.321T>G p.Arg107= synonymous_variant 4/7 -
ENST00000529892.1 c.270T>G p.Arg90= synonymous_variant 3/6 -
ENST00000529984.1 c.279T>G p.Arg93= synonymous_variant 4/7 -
ENST00000531105.1 c.116-2028T>G - intron_variant - 2/2
ENST00000533178.1 c.*523T>G - 3_prime_UTR_variant,NMD_transcript_variant 7/10 -
NM_001048171.1 c.1236T>G p.Arg412= synonymous_variant 13/16 -
NM_001048172.1 c.1197T>G p.Arg399= synonymous_variant 13/16 -
NM_001048173.1 c.1194T>G p.Arg398= synonymous_variant 13/16 -
NM_001048174.1 c.1194T>G p.Arg398= synonymous_variant 13/16 -
NM_001128425.1 c.1278T>G p.Arg426= synonymous_variant 13/16 -
NM_001293190.1 c.1239T>G p.Arg413= synonymous_variant 13/16 -
NM_001293191.1 c.1227T>G p.Arg409= synonymous_variant 13/16 -
NM_001293192.1 c.918T>G p.Arg306= synonymous_variant 13/16 -
NM_001293195.1 c.1194T>G p.Arg398= synonymous_variant 14/17 -
NM_001293196.1 c.918T>G p.Arg306= synonymous_variant 13/16 -
NM_001350650.1 c.849T>G p.Arg283= synonymous_variant 12/15 -
NM_001350651.1 c.849T>G p.Arg283= synonymous_variant 12/15 -
NM_012222.2 c.1269T>G p.Arg423= synonymous_variant 13/16 -
NR_146882.1 n.1452T>G - non_coding_transcript_exon_variant 13/17 -
NR_146883.1 n.1266T>G - non_coding_transcript_exon_variant 12/16 -