NM_000376.3(VDR):c.*222G>C AND Vitamin D-dependent rickets type II with alopecia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001109594.4
Allele description [Variation Report for NM_000376.3(VDR):c.*222G>C]
NM_000376.3(VDR):c.*222G>C
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
-
MULTISPECIES: 30S ribosomal protein S19 [Lactococcus]
MULTISPECIES: 30S ribosomal protein S19 [Lactococcus]gi|499996441|ref|WP_011677159.1|Protein
-
Rattus norvegicus inter-alpha trypsin inhibitor, heavy chain 1 (Itih1), mRNA
Rattus norvegicus inter-alpha trypsin inhibitor, heavy chain 1 (Itih1), mRNAgi|157822976|ref|NM_001107291.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023