NM_000377.3(WAS):c.849C>T (p.Asp283=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001434896.9
Allele description [Variation Report for NM_000377.3(WAS):c.849C>T (p.Asp283=)]
NM_000377.3(WAS):c.849C>T (p.Asp283=)
Condition(s)
- Name:
- X-linked severe congenital neutropenia (SCNX)
- Identifiers:
- MONDO: MONDO:0010294; MedGen: C1845987; Orphanet: 86788; OMIM: 300299
- Name:
- Thrombocytopenia 1
- Synonyms:
- THROMBOCYTOPENIA, X-LINKED, 1; Thrombocytopenia, X-linked; X-linked thrombocytopenia with normal platelets
- Identifiers:
- MONDO: MONDO:0010743; MedGen: C1839163; Orphanet: 268322; OMIM: 313900
- Name:
- Wiskott-Aldrich syndrome (WAS)
- Synonyms:
- Eczema thrombocytopenia immunodeficiency syndrome; Immunodeficiency 2; IMD 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010518; MedGen: C0043194; Orphanet: 906; OMIM: 301000
-
Assembly for Nucleotide (Select 2536932518) (1)
Assembly
-
Assembly for Nucleotide (Select 2536932507) (1)
Assembly
-
MAG: Polynucleobacter sp. 35-46-11 04302015_35_scaffold_28092, whole genome shot...
MAG: Polynucleobacter sp. 35-46-11 04302015_35_scaffold_28092, whole genome shotgun sequencegi|2536932525|ref|NZ_NCFJ01000768.1 |WGS:NZ_NCFJ01|04302015_35_scaffold_28092Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024