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Variant : CV580769 (NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)) Homo sapiens

Symbol: CV580769
Name: NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)
Condition: History of neurodevelopmental disorder [RCV000719789]|Neurodevelopmental [RCV000719789]
Clinical Significance: uncertain significance
Last Evaluated: 05/10/2017
Review Status: criteria provided, single submitter
Related Genes: PTCHD1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_021300.1:g.50189G>T
NC_000023.10:g.23398173G>T
NC_000023.11:g.23380056G>T
NP_775766.2:p.Val273Phe
NM_173495.3:c.817G>T
NM_173495.2:c.817G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X23,380,056 - 23,380,056CLINVAR
GRCh37X23,398,173 - 23,398,173CLINVAR
Cytogenetic MapXXp22.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13830255
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.