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Variant : CV205799 (NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)) Homo sapiens

Symbol: CV205799
Name: NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
Condition: Cardiac valvular dysplasia, X-linked [RCV000191086]|Ehlers-Danlos syndrome, type 5 [RCV000191086]|Periventricular nodular heterotopia 1 [RCV000794294]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/05/2018
Review Status: criteria provided, single submitter
Related Genes: FLNA  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001456.3:c.4726G>A
NG_011506.1:g.21411G>A
NC_000023.11:g.154358228C>T
NC_000023.10:g.153586596C>T
NP_001104026.1:p.Gly1576Arg
NP_001447.2:p.Gly1576Arg
NM_001110556.2:c.4726G>A
NG_011506.2:g.21411G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,358,228 - 154,358,228CLINVAR
GRCh37X153,586,596 - 153,586,596CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: Cardiac valvular dysplasia, X-linked; EDS V; EHLERS-DANLOS SYNDROME, TYPE V; Frontometaphyseal dysplasia; Frontometaphyseal Dysplasia (FMD); FRONTOMETAPHYSEAL DYSPLASIA 1; HETEROTOPIA, PERIVENTRICULAR, 1; Heterotopia, periventricular, Ehlers-Danlos variant; Melnick-Needles syndrome; OPD II SYNDROME; Oto-palato-digital syndrome, type II; Otopalatodigital Syndrome, Type II; periventricular nodular heterotopia; PERIVENTRICULAR NODULAR HETEROTOPIA 4; X-linked periventricular heterotopia
Age Of Onset: childhood



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10406292
Created: 2015-11-10
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.