Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV426453 (NM_173495.3(PTCHD1):c.2313G>T (p.Met771Ile)) Homo sapiens

Symbol: CV426453
Name: NM_173495.3(PTCHD1):c.2313G>T (p.Met771Ile)
Condition: not specified [RCV000498997]
Clinical Significance: uncertain significance
Last Evaluated: 06/05/2017
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.63964G>T
NC_000023.11:g.23393831G>T
NC_000023.10:g.23411948G>T
NP_775766.2:p.Met771Ile
NM_173495.3:c.2313G>T
NM_173495.2:c.2313G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X23,393,831 - 23,393,831CLINVAR
GRCh37X23,411,948 - 23,411,948CLINVAR
Cytogenetic MapXXp22.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13212566
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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