VWF c.6598+126G>A

Variant ID: 12-6102902-C-T

NM_000552.3(VWF):c.6598+126G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs216900
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: VWF: 6598+126G>A; rs216900
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia.

Bmc Medical Genetics
Parimi, Neeta N; Tromp, Gerard G; Kuivaniemi, Helena H; Nien, Jyh Kae JK; Gomez, Ricardo R; Romero, Roberto R; Goddard, Katrina Ab KA
Publication Date: 2008-07-03

Variant appearance in text: rs216900
PubMed Link: 18598365
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-60.pdf
View BVdb publication page