Annotation Detail
Information
- Associated Genes
- F7
- Associated Variants
-
F7 p.Arg375Gln (p.R375Q)
(
ENST00000375581.3,
ENST00000346342.8,
ENST00000541084.5 )
F7 p.Arg375Gln (p.R375Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_019616.4(F7):c.1058G>A (p.Arg353Gln) AND Inborn genetic diseases
- ClinVar Allele ID
- 3249520
- ClinVar RefSeq Alternation Syntax
- NM_000131.4:c.1124G>A
- ClinVar RefSeq Alternation Syntax
- NM_019616.4:c.1058G>A
- ClinVar RefSeq Alternation Syntax
- NR_051961.2:n.1142G>A
- ClinVar RefSeq Alternation Syntax
- NM_001267554.2:c.872G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-11-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004385867
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs