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Variant : CV26809 (NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)) Homo sapiens

Symbol: CV26809
Name: NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
Condition: Cardiac valvular dysplasia, X-linked [RCV000020423]|Ehlers-Danlos syndrome, type 5 [RCV000020423]|Periventricular nodular heterotopia 1 [RCV000012536]|X-linked periventricular heterotopia [RCV000012536]
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:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Nucleotide Change: 1923c-t
Evidence: curation|literature only
HGVS Name(s): NG_011506.1:g.15014C>T
NC_000023.11:g.154364625G>A
NC_000023.10:g.153592993G>A
NP_001104026.1:p.Gly641=
NM_001110556.2:c.1923C>T
NM_001456.3:c.1923C>T
NG_011506.2:g.15014C>T
NM_001110556.1:c.1923C>T
NP_001447.2:p.Gly641=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,364,625 - 154,364,625CLINVAR
GRCh37X153,592,993 - 153,592,993CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: Cardiac valvular dysplasia, X-linked; EDS V; EHLERS-DANLOS SYNDROME, TYPE V; HETEROTOPIA, PERIVENTRICULAR, 1; HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT; periventricular nodular heterotopia; PERIVENTRICULAR NODULAR HETEROTOPIA 4; X-linked periventricular heterotopia
Age Of Onset: all ages|childhood|variable
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8562710
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.