ClinVar Genomic variation as it relates to human health
NM_000342.4(SLC4A1):c.2710_2718del (p.Tyr904_Glu906del)
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SLC4A1 | - | - |
GRCh38 GRCh37 |
680 | 690 |
Conditions - Germline
There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.
Citations for germline classification of this variant
HelpConditions - Somatic
There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.
Citations for somatic classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024