NM_001692.4(ATP6V1B1):c.175-1G>CRat Genome Database

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Variant : CV625971 (NM_001692.4(ATP6V1B1):c.175-1G>C) Homo sapiens

Symbol: CV625971
Name: NM_001692.4(ATP6V1B1):c.175-1G>C
RGD ID: 15014864
Condition: Postaxial polydactyly type A1 [RCV000852376]
Clinical Significance: pathogenic
Last Evaluated: 02/01/2019
Review Status: criteria provided, single submitter
Related Genes: ATP6V1B1  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: research
HGVS Name(s): NM_001692.4:c.175-1G>C
NC_000002.11:g.71185175G>C
NM_001692.3:c.175-1G>C
NG_008016.1:g.27178G>C
NC_000002.12:g.70958045G>C
LRG_1176:g.27178G>C
LRG_1176t1:c.175-1G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38270,958,045 - 70,958,045CLINVAR
GRCh37271,185,175 - 71,185,175CLINVAR
Cytogenetic Map22p13.3CLINVAR
Trait Synonyms: Hypercalcemic nephropathy; Increased calcium level in kidney; Nephrocalcinosis



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:31549751  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000852376 CLINVAR
dbSNP (RS) rs1572919267 CLINVAR
MedGen C4282400 CLINVAR
NCBI Gene ATP6V1B1 CLINVAR
OMIM 174200 CLINVAR
  192132 CLINVAR
SNOMED CT 48638002 CLINVAR