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Variant : CV415740 (NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser)) Homo sapiens

Symbol: CV415740
Name: NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser)
Condition: not provided [RCV000489087]
Clinical Significance: likely pathogenic
Last Evaluated: 05/14/2015
Review Status: criteria provided, single submitter
Related Genes: AIFM1   RAB33A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_013217.1:g.23314T>C
NC_000023.11:g.130147520A>G
NC_000023.10:g.129281495A>G
NP_004199.1:p.Phe193Ser
NM_145812.2:c.566T>C
NM_001130847.3:c.578T>C
NM_004208.4:c.578T>C
NR_132647.1:n.666T>C
NM_004208.3:c.578T>C
NP_665811.1:p.Phe189Ser
NP_001124319.1:p.Phe193Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,147,520 - 130,147,520CLINVAR
GRCh37X129,281,495 - 129,281,495CLINVAR
Cytogenetic MapXXq26.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12906327
Created: 2017-06-06
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.