EHBP1 c.1864C>A ;(p.Q622K)

Variant ID: 2-63175845-C-A

NM_001142616.1(EHBP1):c.1864C>A;(p.Q622K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: EHBP1: 1864C>A; Q622K
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: rs377407567
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page