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Variant : CV211997 (NM_004208.4(AIFM1):c.1642C>T (p.Pro548Ser)) Homo sapiens

Symbol: CV211997
Name: NM_004208.4(AIFM1):c.1642C>T (p.Pro548Ser)
Condition: not specified [RCV000198976]
Clinical Significance: likely benign
Last Evaluated: 12/30/2013
Review Status: criteria provided, single submitter
Related Genes: AIFM1   RAB33A  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_013217.1:g.40736C>T
NC_000023.11:g.130130098G>A
NC_000023.10:g.129264073G>A
NP_004199.1:p.Pro548Ser
NM_001130847.3:c.*870C>T
NR_132647.1:n.1933C>T
NM_145812.2:c.1630C>T
NM_004208.4:c.1642C>T
NM_001130846.3:c.625C>T
NM_004208.3:c.1642C>T
NP_001124318.2:p.Pro209Ser
NP_665811.1:p.Pro544Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,130,098 - 130,130,098CLINVAR
GRCh37X129,264,073 - 129,264,073CLINVAR
Cytogenetic MapXXq26.1CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10410828
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2019-11-05
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.