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Variant : CV231319 (NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)) Homo sapiens

Symbol: CV231319
Name: NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
Condition: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS [RCV000721121]|not provided [RCV000844249]|not specified [RCV000218316]
Clinical Significance: pathogenic|benign|likely benign
Last Evaluated: 11/06/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: TSPEAR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_144991.2:c.1915G>A
NG_033806.1:g.216701G>A
NC_000021.9:g.44499878C>T
NC_000021.8:g.45919761C>T
NP_659428.2:p.Asp639Asn
NM_001272037.2:c.1711G>A
NM_144991.3:c.1915G>A
NC_000021.8:g.45919761C>T
NM_144991.2:c.1915G>A
NP_001258966.1:p.Asp571Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,499,878 - 44,499,878CLINVAR
GRCh372145,919,761 - 45,919,761CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11092255
Created: 2016-06-07
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.