Annotation Detail
Information
- Associated Genes
- ASAH1
- Associated Variants
-
ASAH1 p.Met226Thr (p.M226T)
(
ENST00000314146.10,
ENST00000381733.9,
ENST00000520781.6,
ENST00000636128.1,
ENST00000636171.1,
ENST00000636455.1,
ENST00000636577.1,
ENST00000636691.1,
ENST00000636997.1,
ENST00000637528.1,
ENST00000637636.1,
ENST00000637790.2,
ENST00000637922.1,
ENST00000637991.1 )
ASAH1 p.Met226Thr (p.M226T) ( ENST00000314146.10, ENST00000381733.9, ENST00000520781.6, ENST00000636128.1, ENST00000636171.1, ENST00000636455.1, ENST00000636577.1, ENST00000636691.1, ENST00000636997.1, ENST00000637528.1, ENST00000637636.1, ENST00000637790.2, ENST00000637922.1, ENST00000637991.1 ) - Associated Disease
- Farber lipogranulomatosis
- Source Database
- ClinVar
- Description
- NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) AND Farber lipogranulomatosis
- ClinVar Allele ID
- 313525
- ClinVar RefSeq Alternation Syntax
- NM_177924.5:c.629T>C
- ClinVar RefSeq Alternation Syntax
- NM_001127505.3:c.611T>C
- ClinVar RefSeq Alternation Syntax
- NM_001363743.2:c.434T>C
- ClinVar RefSeq Alternation Syntax
- NM_004315.6:c.677T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000275237
- ClinVar Disease
- Farber lipogranulomatosis
- Observed Origin Sample
- germline
Drugs