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Variant : CV214763 (NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)) Homo sapiens

Symbol: CV214763
Name: NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)
Condition: Deafness, X-linked 5 [RCV000202363]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2015
Review Status: no assertion criteria provided
Related Genes: AIFM1   RAB33A  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: literature only
HGVS Name(s): NM_001130847.3:c.*580G>A
NG_013217.1:g.37425G>A
NC_000023.11:g.130133409C>T
NC_000023.10:g.129267384C>T
NR_132647.1:n.1643G>A
NP_004199.1:p.Arg451Gln
NM_145812.2:c.1340G>A
O95831:p.Arg451Gln
NM_001130846.3:c.335G>A
NM_004208.3:c.1352G>A
NP_001124318.2:p.Arg112Gln
NP_665811.1:p.Arg447Gln
NM_004208.4:c.1352G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,133,409 - 130,133,409CLINVAR
GRCh37X129,267,384 - 129,267,384CLINVAR
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
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10448920
Created: 2015-12-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.