NM_021072.4(HCN1):c.1562G>T (p.Gly521Val)Rat Genome Database

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Variant : CV964258 (NM_021072.4(HCN1):c.1562G>T (p.Gly521Val)) Homo sapiens

Symbol: CV964258
Name: NM_021072.4(HCN1):c.1562G>T (p.Gly521Val)
RGD ID: 38597922
Condition: Hypomyelinating leukodystrophy 7 [RCV001253258]
Clinical Significance: pathogenic
Last Evaluated: 09/11/2018
Review Status: criteria provided, single submitter
Related Genes: HCN1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.45303655C>A
NC_000005.9:g.45303757C>A
NM_021072.3:c.1562G>T
NP_066550.2:p.Gly521Val
NM_021072.4:c.1562G>T
NG_042183.1:g.397464G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38545,303,655 - 45,303,655CLINVAR
GRCh37545,303,757 - 45,303,757CLINVAR
Cytogenetic Map55p12CLINVAR
Trait Synonyms: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION; Dentoleukoencephalopathy; Dentoleukoencephalopathy, autosomal recessive; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA AND HYPOGONADOTROPIC HYPOGONADISM; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC HYPOGONADISM; Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism; LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001253258 CLINVAR
MedGen C2676243 CLINVAR
NCBI Gene HCN1 CLINVAR
OMIM 602780 CLINVAR
  607694 CLINVAR