Variant ID: 4-72634043-G-A

NM_000583.3(GC):c.236C>T;(p.Ala79Val)

This variant was identified in 4 publications




Publications:


Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
G Jungwirth, R Warta, C Beynon, F Sahm, A von Deimling, A Unterberg, C Herold-Mende, C Jungk
Publication Date: 2019-08-30

Variant appearance in text: GC: A79V
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx
View BVdb publication page



De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Plos Genetics
JR Priest, K Osoegawa, N Mohammed, V Nanda, R Kundu, K Schultz, EJ Lammer, S Girirajan, T Scheetz, D Waggott, F Haddad, S Reddy, D Bernstein, T Burns, JD Steimle, XH Yang, IP Moskowitz, M Hurles, RP Lifton, D Nickerson, M Bamshad, EE Eichler, S Mital, V Sheffield, T Quertermous, BD Gelb, M Portman, EA Ashley
Publication Date: 2016-04

Variant appearance in text: GC: A79V
PubMed Link: 27058611
Variant Present in the following documents:
  • pgen.1005963.s011.pdf
View BVdb publication page



Germinal center reentries of BCL2-overexpressing B cells drive follicular lymphoma progression.

The Journal Of Clinical Investigation
S Sungalee, E Mamessier, E Morgado, E Grégoire, PZ Brohawn, CA Morehouse, N Jouve, C Monvoisin, C Menard, G Debroas, M Faroudi, V Mechin, JM Navarro, C Drevet, FC Eberle, L Chasson, F Baudimont, SJ Mancini, J Tellier, JM Picquenot, R Kelly, P Vineis, P Ruminy, B Chetaille, ES Jaffe, C Schiff, J Hardwigsen, DA Tice, BW Higgs, K Tarte, B Nadel, S Roulland
Publication Date: 2014-12

Variant appearance in text: GC: A79V
PubMed Link: 25384217
Variant Present in the following documents:
  • JCI72415sdt1-11.xlsx
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: GC: 236C>T
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000273951.8 c.236C>T p.Ala79Val missense_variant 3/13 -
ENST00000503472.1 n.178C>T - non_coding_transcript_exon_variant 2/12 -
ENST00000504199.1 c.293C>T p.Ala98Val missense_variant 4/14 -
ENST00000505234.1 n.380C>T - non_coding_transcript_exon_variant 2/4 -
ENST00000506245.1 c.236C>T p.Ala79Val missense_variant 4/5 -
ENST00000509740.1 c.236C>T p.Ala79Val missense_variant,NMD_transcript_variant 3/12 -
ENST00000513476.1 c.236C>T p.Ala79Val missense_variant 3/12 -
NM_000583.4 c.236C>T p.Ala79Val missense_variant 3/13 -
NM_001204306.1 c.236C>T p.Ala79Val missense_variant 4/14 -
NM_001204307.1 c.293C>T p.Ala98Val missense_variant 4/14 -