CALR c.104_127del ;(p.S35_K43delins*)

Variant ID: 19-13049960-TCCCGCTGGATCGAATCCAAACACA-T

NM_004343.3(CALR):c.104_127del;(p.S35_K43delins*)

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:

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.

Jimd Reports
Brown, Madalyn M; Turgeon, Coleman C; Rinaldo, Piero P; Pop, Ana A; Salomons, Gajja S GS; Roullet, Jean-Baptiste JB; Gibson, K Michael KM
Publication Date: 2020-05

Variant appearance in text: SSA: 104_127del
PubMed Link: 32395407
Variant Present in the following documents:
  • Main text
View BVdb publication page