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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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