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Variant : CV209002 (NM_173495.3(PTCHD1):c.336C>T (p.Thr112=)) Homo sapiens

Symbol: CV209002
Name: NM_173495.3(PTCHD1):c.336C>T (p.Thr112=)
Condition: not specified [RCV000194663]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/26/2016
Review Status: criteria provided, single submitter
Related Genes: PTCHD1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_021300.1:g.5344C>T
NC_000023.11:g.23335211C>T
NC_000023.10:g.23353328C>T
NP_775766.2:p.Thr112=
NM_173495.3:c.336C>T
NM_173495.2:c.336C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X23,335,211 - 23,335,211CLINVAR
GRCh37X23,353,328 - 23,353,328CLINVAR
Cytogenetic MapXXp22.11CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10404266
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.