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Variant : CV534684 (NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)) Homo sapiens

Symbol: CV534684
Name: NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
Condition: Cardiac valvular dysplasia, X-linked [RCV000764862]|Ehlers-Danlos syndrome, type 5 [RCV000764862]|Periventricular nodular heterotopia 1 [RCV000640747]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
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): NG_011506.1:g.26864C>T
NC_000023.10:g.153581143G>A
NC_000023.11:g.154352775G>A
NP_001447.2:p.Pro2118Ser
NM_001456.3:c.6352C>T
NP_001104026.1:p.Pro2126Ser
NM_001110556.2:c.6376C>T
NG_011506.2:g.26864C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,352,775 - 154,352,775CLINVAR
GRCh37X153,581,143 - 153,581,143CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: 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



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13609596
Created: 2018-06-12
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.