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Variant : CV205682 (NM_173495.3(PTCHD1):c.2128del (p.Leu710fs)) Homo sapiens

Symbol: CV205682
Name: NM_173495.3(PTCHD1):c.2128del (p.Leu710fs)
Condition: Autism, susceptibility to, X-linked 4 [RCV000191024]|Chromosome Xp22 deletion syndrome [RCV000191024]
Clinical Significance: risk factor
Last Evaluated: 09/01/2015
Review Status: no assertion criteria provided
Related Genes: PTCHD1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NC_000023.11:g.23393646del
NC_000023.10:g.23411763del
NM_173495.3:c.2128del
NG_021300.1:g.63779del
NM_173495.2:c.2128del
NP_775766.2:p.Leu710fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X23,393,646 - 23,393,646CLINVAR
GRCh37X23,411,763 - 23,411,763CLINVAR
Cytogenetic MapXXp22.11CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10404684
Created: 2015-11-10
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.