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Variant : CV411299 (NM_173495.3(PTCHD1):c.2T>C (p.Met1Thr)) Homo sapiens

Symbol: CV411299
Name: NM_173495.3(PTCHD1):c.2T>C (p.Met1Thr)
Condition: not provided [RCV000478083]
Clinical Significance: likely pathogenic
Last Evaluated: 03/16/2017
Review Status: criteria provided, single submitter
Related Genes: PTCHD1  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_021300.1:g.5010T>C
NC_000023.11:g.23334877T>C
NC_000023.10:g.23352994T>C
NP_775766.2:p.Met1Thr
NM_173495.3:c.2T>C
NM_173495.2:c.2T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X23,334,877 - 23,334,877CLINVAR
GRCh37X23,352,994 - 23,352,994CLINVAR
Cytogenetic MapXXp22.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12893193
Created: 2017-05-09
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.