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

Variant : CV172159 (NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)) Homo sapiens

Symbol: CV172159
Name: NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)
Condition: Deafness, X-linked 5 [RCV000149858]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AIFM1   RAB33A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_013217.1:g.23042C>T
NC_000023.11:g.130147792G>A
NC_000023.10:g.129281767G>A
NP_004199.1:p.Ala145Val
NR_132647.1:n.522C>T
NM_145812.2:c.422C>T
NM_004208.4:c.434C>T
NM_001130847.3:c.434C>T
NM_004208.3:c.434C>T
NP_665811.1:p.Ala141Val
NP_001124319.1:p.Ala145Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,147,792 - 130,147,792CLINVAR
GRCh37X129,281,767 - 129,281,767CLINVAR
Cytogenetic MapXXq26.1CLINVAR
Trait Synonyms: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9687539
Created: 2015-02-10
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.