Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV422412 (NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)) Homo sapiens

Symbol: CV422412
Name: NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)
Condition: not provided [RCV000493175]
Clinical Significance: likely pathogenic
Last Evaluated: 10/10/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
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.34688C>A
NC_000023.11:g.130136146G>T
NC_000023.10:g.129270121G>T
NP_004199.1:p.Pro402Thr
NM_001130846.3:c.187C>A
NR_132647.1:n.1495C>A
NM_004208.3:c.1204C>A
NM_001130847.3:c.*432C>A
NM_145812.2:c.1192C>A
NM_004208.4:c.1204C>A
NP_665811.1:p.Pro398Thr
NP_001124318.2:p.Pro63Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,136,146 - 130,136,146CLINVAR
GRCh37X129,270,121 - 129,270,121CLINVAR
Cytogenetic MapXXq26.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12912920
Created: 2017-07-11
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.