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Variant : CV26815 (NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)) Homo sapiens

Symbol: CV26815
Name: NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)
Condition: Cardiac valvular dysplasia, X-linked [RCV000012543]|Ehlers-Danlos syndrome, type 5 [RCV000012543]
Clinical Significance: pathogenic
Last Evaluated: 07/12/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FLNA  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NG_011506.1:g.15001C>A
NC_000023.11:g.154364638G>T
NC_000023.10:g.153593006G>T
NP_001104026.1:p.Pro637Gln
NM_001110556.2:c.1910C>A
NM_001456.3:c.1910C>A
P21333:p.Pro637Gln
NP_001447.2:p.Pro637Gln
NG_011506.2:g.15001C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,364,638 - 154,364,638CLINVAR
GRCh37X153,593,006 - 153,593,006CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: Cardiac valvular dysplasia, X-linked; EDS V; EHLERS-DANLOS SYNDROME, TYPE V
Age Of Onset: childhood



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8562716
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.