Variant ID: 1-45796220-C-A

NM_012222.2(MUTYH):c.1477G>T;(p.Val493Leu)

This variant was identified in 1 publication




Publications:


Recurring mutations found by sequencing an acute myeloid leukemia genome.

The New England Journal Of Medicine
ER Mardis, L Ding, DJ Dooling, DE Larson, MD McLellan, K Chen, DC Koboldt, RS Fulton, KD Delehaunty, SD McGrath, LA Fulton, DP Locke, VJ Magrini, RM Abbott, TL Vickery, JS Reed, JS Robinson, T Wylie, SM Smith, L Carmichael, JM Eldred, CC Harris, J Walker, JB Peck, F Du, AF Dukes, GE Sanderson, AM Brummett, E Clark, JF McMichael, RJ Meyer, JK Schindler, CS Pohl, JW Wallis, X Shi, L Lin, H Schmidt, Y Tang, C Haipek, ME Wiechert, JV Ivy, J Kalicki, G Elliott, RE Ries, JE Payton, P Westervelt, MH Tomasson, MA Watson, J Baty, S Heath, WD Shannon, R Nagarajan, DC Link, MJ Walter, TA Graubert, JF DiPersio, RK Wilson, TJ Ley
Publication Date: 2009-09-10

Variant appearance in text: MUTYH: V493L
PubMed Link: 19657110
Variant Present in the following documents:
  • NIHMS320783-supplement-supp_app.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.1405G>T p.Val469Leu missense_variant 15/16 -
ENST00000355498.2 c.1402G>T p.Val468Leu missense_variant 15/16 -
ENST00000372098.3 c.1477G>T p.Val493Leu missense_variant 15/16 -
ENST00000372100.5 c.1435G>T p.Val479Leu missense_variant 15/16 -
ENST00000372104.1 c.1402G>T p.Val468Leu missense_variant 16/17 -
ENST00000372110.3 c.1447G>T p.Val483Leu missense_variant 15/16 -
ENST00000372115.3 c.1444G>T p.Val482Leu missense_variant 15/16 -
ENST00000448481.1 c.1435G>T p.Val479Leu missense_variant 15/16 -
ENST00000450313.1 c.1486G>T p.Val496Leu missense_variant 15/16 -
ENST00000456914.2 c.1402G>T p.Val468Leu missense_variant 15/16 -
ENST00000467459.1 c.*264G>T - 3_prime_UTR_variant,NMD_transcript_variant 7/8 -
ENST00000475516.1 c.*1215G>T - 3_prime_UTR_variant,NMD_transcript_variant 15/16 -
ENST00000481571.1 c.*1215G>T - 3_prime_UTR_variant,NMD_transcript_variant 15/16 -
ENST00000482094.1 n.723G>T - non_coding_transcript_exon_variant 4/5 -
ENST00000485271.1 c.100G>T p.Val34Leu missense_variant,NMD_transcript_variant 2/4 -
ENST00000488731.2 c.487G>T p.Val163Leu missense_variant 6/7 -
ENST00000528013.2 c.1444G>T p.Val482Leu missense_variant 15/16 -
ENST00000528332.2 c.529G>T p.Val177Leu missense_variant 6/7 -
ENST00000529892.1 c.478G>T p.Val160Leu missense_variant 5/6 -
ENST00000529984.1 c.487G>T p.Val163Leu missense_variant 6/7 -
ENST00000531105.1 c.116-1111G>T - intron_variant - 2/2
ENST00000533178.1 c.*731G>T - 3_prime_UTR_variant,NMD_transcript_variant 9/10 -
NM_001048171.1 c.1444G>T p.Val482Leu missense_variant 15/16 -
NM_001048172.1 c.1405G>T p.Val469Leu missense_variant 15/16 -
NM_001048173.1 c.1402G>T p.Val468Leu missense_variant 15/16 -
NM_001048174.1 c.1402G>T p.Val468Leu missense_variant 15/16 -
NM_001128425.1 c.1486G>T p.Val496Leu missense_variant 15/16 -
NM_001293190.1 c.1447G>T p.Val483Leu missense_variant 15/16 -
NM_001293191.1 c.1435G>T p.Val479Leu missense_variant 15/16 -
NM_001293192.1 c.1126G>T p.Val376Leu missense_variant 15/16 -
NM_001293195.1 c.1402G>T p.Val468Leu missense_variant 16/17 -
NM_001293196.1 c.1126G>T p.Val376Leu missense_variant 15/16 -
NM_001350650.1 c.1057G>T p.Val353Leu missense_variant 14/15 -
NM_001350651.1 c.1057G>T p.Val353Leu missense_variant 14/15 -
NM_012222.2 c.1477G>T p.Val493Leu missense_variant 15/16 -
NR_146882.1 n.1660G>T - non_coding_transcript_exon_variant 15/17 -
NR_146883.1 n.1474G>T - non_coding_transcript_exon_variant 14/16 -