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Variant : CV446497 (NM_004208.4(AIFM1):c.1090A>G (p.Met364Val)) Homo sapiens

Symbol: CV446497
Name: NM_004208.4(AIFM1):c.1090A>G (p.Met364Val)
Condition: not specified [RCV000519178]
Clinical Significance: uncertain significance
Last Evaluated: 09/22/2017
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): NM_004208.4:c.1090A>G
NR_132647.1:n.1381A>G
NM_004208.3:c.1090A>G
NM_001130846.3:c.73A>G
NP_001124318.2:p.Met25Val
NP_665811.1:p.Met360Val
NC_000023.10:g.129270692T>C
NP_004199.1:p.Met364Val
NC_000023.11:g.130136717T>C
NG_013217.1:g.34117A>G
NM_001130847.3:c.*318A>G
NM_145812.2:c.1078A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,136,717 - 130,136,717CLINVAR
GRCh37X129,270,692 - 129,270,692CLINVAR
Cytogenetic MapXXq26.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13504421
Created: 2018-01-16
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.