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Variant : CV195294 (NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)) Homo sapiens

Symbol: CV195294
Name: NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
Condition: Cardiac valvular dysplasia, X-linked [RCV000764865]|Ehlers-Danlos syndrome, type 5 [RCV000764865]|Periventricular nodular heterotopia 1 [RCV000471973]|not provided [RCV000179384]|not provided [RCV000723962]|not specified [RCV000221578]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: criteria provided, multiple submitters, no conflicts|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): NC_000023.10:g.153595186G>A
NG_011506.1:g.12821C>T
NC_000023.11:g.154366818G>A
NP_001104026.1:p.Arg301Trp
NM_001456.3:c.901C>T
NP_001447.2:p.Arg301Trp
NG_011506.2:g.12821C>T
NM_001110556.2:c.901C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,366,818 - 154,366,818CLINVAR
GRCh37X153,595,186 - 153,595,186CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant; Cardiac valvular dysplasia, X-linked; EDS V; EHLERS-DANLOS SYNDROME, TYPE V; FG syndrome 2; Frontometaphyseal dysplasia; Frontometaphyseal Dysplasia (FMD); FRONTOMETAPHYSEAL DYSPLASIA 1; HETEROTOPIA, PERIVENTRICULAR, 1; Heterotopia, periventricular, Ehlers-Danlos variant; Intestinal pseudoobstruction neuronal chronic idiopathic X-linked; INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT; Melnick-Needles syndrome; ODPD; ODPF SYNDROME; OPD I SYNDROME; OPD II SYNDROME; OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Otopalatodigital Syndrome, Type I; Otopalatodigital Syndrome, Type II; periventricular nodular heterotopia; Periventricular nodular heterotopia 1; PERIVENTRICULAR NODULAR HETEROTOPIA 4; Terminal osseous dysplasia; TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; X-linked periventricular heterotopia
Age Of Onset: all ages
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10052763
Created: 2015-07-14
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.