SLC45A2 c.619C>G ;(p.L207V)

Variant ID: 5-33964065-G-C

NM_016180.3(SLC45A2):c.619C>G;(p.L207V)

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:

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Scientific Reports
Kruijt, C C CC; Schalij-Delfos, N E NE; de Wit, G C GC; Florijn, R J RJ; van Genderen, M M MM
Publication Date: 2021-06-02

Variant appearance in text: SLC45A2: L207V
PubMed Link: 34078970
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_90896.pdf
View BVdb publication page