NM_000376.3(VDR):c.1025-49G>T AND Vitamin D-dependent rickets type II with alopecia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002243375.1
Allele description [Variation Report for NM_000376.3(VDR):c.1025-49G>T]
NM_000376.3(VDR):c.1025-49G>T
Condition(s)
- Name:
- Vitamin D-dependent rickets type II with alopecia (VDDR2A)
- Synonyms:
- GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D; HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS; PDDR IIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010186; MedGen: C0342646; Orphanet: 93160; OMIM: 277440
-
Secretory carrier membrane protein (SCAMP) family protein [Arabidopsis thaliana]
Secretory carrier membrane protein (SCAMP) family protein [Arabidopsis thaliana]gi|15226410|ref|NP_179680.1|Protein
-
LOC117430672 [Acipenser ruthenus]
LOC117430672 [Acipenser ruthenus]Gene ID:117430672Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024