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Variant : CV172157 (NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)) Homo sapiens

Symbol: CV172157
Name: NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)
Condition: Deafness, X-linked 5 [RCV000149860]
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: 2kb upstream variant|intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_013217.1:g.31026C>T
NC_000023.11:g.130139808G>A
NC_000023.10:g.129273783G>A
NP_004199.1:p.Thr282Met
NR_132647.1:n.933C>T
NM_145812.2:c.833C>T
NM_001130847.3:c.845C>T
NM_004208.4:c.845C>T
NM_004208.3:c.845C>T
NP_665811.1:p.Thr278Met
NP_001124319.1:p.Thr282Met
Position
Human AssemblyChrPosition (strand)Source
GRCh38X130,139,808 - 130,139,808CLINVAR
GRCh37X129,273,783 - 129,273,783CLINVAR
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: 9687541
Created: 2015-02-10
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.