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Variant : CV360627 (NM_173495.3(PTCHD1):c.1965_1968AACA[1] (p.Asn657fs)) Homo sapiens

Symbol: CV360627
Name: NM_173495.3(PTCHD1):c.1965_1968AACA[1] (p.Asn657fs)
Condition: not provided [RCV000413638]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: PTCHD1  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NP_775766.2:p.Asn657fs
NM_173495.2:c.1969_1972delAACA
NM_173495.3:c.1965_1968AACA[1]
NG_021300.1:g.63616_63619AACA[1]
NC_000023.11:g.23393483_23393486AACA[1]
NC_000023.10:g.23411600_23411603AACA[1]
Position
Human AssemblyChrPosition (strand)Source
GRCh38X23,393,487 - 23,393,490CLINVAR
GRCh37X23,411,604 - 23,411,607CLINVAR
Cytogenetic MapXXp22.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12742426
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2019-11-05
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.