APP c.1687+4983T>C

APP c.1687+4983T>C

Variant ID: 21-27321921-A-G

NM_000484.3(APP):c.1687+4983T>C

This variant was identified in 1 publication

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg

Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T

Publication Date: 2022-01

Variant appearance in text: APP: 1687+4983T>C

PubMed Link: 34878611

Variant Present in the following documents:

438_2021_1842_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg

Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T

Publication Date: 2021-12-08

Variant appearance in text: APP: 1687+4983T>C

PubMed Link: 34878611

Variant Present in the following documents:

438_2021_1842_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page