NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) AND Waardenburg syndrome type 2A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001290155.1
Allele description [Variation Report for NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)]
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)
Condition(s)
-
complement C1q subcomponent subunit B [Pteropus vampyrus]
complement C1q subcomponent subunit B [Pteropus vampyrus]gi|759112554|ref|XP_011355853.1|Protein
-
SFRP1 [Anser cygnoides]
SFRP1 [Anser cygnoides]Gene ID:106044371Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 25, 2023