Annotation Detail
Information
- Associated Genes
- HPS1
- Associated Variants
-
ENSG00000289758 p.Phe149= (p.F149=), HPS1 p.Phe149= (p.F149=)
(
ENST00000699139.1,
ENST00000699137.1,
ENST00000414009.2,
ENST00000699146.1,
ENST00000325103.10,
ENST00000699125.1,
ENST00000699133.1,
ENST00000699134.1,
ENST00000699118.1,
ENST00000699122.1,
ENST00000699131.1,
ENST00000699140.1,
ENST00000699136.1,
ENST00000699142.1,
ENST00000338546.9,
ENST00000361490.9 )
ENSG00000289758 p.Phe149= (p.F149=), HPS1 p.Phe149= (p.F149=) ( ENST00000325103.10, ENST00000338546.9, ENST00000361490.9, ENST00000414009.2, ENST00000699118.1, ENST00000699122.1, ENST00000699125.1, ENST00000699131.1, ENST00000699133.1, ENST00000699134.1, ENST00000699136.1, ENST00000699137.1, ENST00000699139.1, ENST00000699140.1, ENST00000699142.1, ENST00000699146.1 ) - Associated Disease
- HPS1-related disorder
- Source Database
- ClinVar
- Description
- NM_000195.5(HPS1):c.447C>T (p.Phe149=) AND HPS1-related disorder
- ClinVar Allele ID
- 768100
- ClinVar RefSeq Alternation Syntax
- NM_000195.5:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322484.2:c.78C>T
- ClinVar RefSeq Alternation Syntax
- NM_182639.4:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322490.2:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322477.2:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322483.2:c.78C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322481.2:c.304C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322482.2:c.304C>T
- ClinVar RefSeq Alternation Syntax
- NM_001311345.2:c.-470C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322491.2:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322485.2:c.78C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322476.2:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322480.2:c.304C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322489.2:c.-470C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322478.2:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322479.2:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322492.2:c.447C>T
- ClinVar RefSeq Alternation Syntax
- NM_001322487.2:c.-569C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2020-02-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003942893
- ClinVar Disease
- HPS1-related disorder
- Observed Origin Sample
- germline
Drugs