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Variant : CV404851 (NM_014332.3(SMPX):c.133-1G>A) Homo sapiens

Symbol: CV404851
Name: NM_014332.3(SMPX):c.133-1G>A
Condition: Deafness, X-linked 4 [RCV000477909]
Clinical Significance: likely pathogenic
Last Evaluated: 07/21/2015
Review Status: no assertion criteria provided
Related Genes: SMPX  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: research
HGVS Name(s): NG_031916.1:g.25463G>A
NC_000023.11:g.21737698C>T
NC_000023.10:g.21755816C>T
NM_014332.2:c.133-1G>A
NM_014332.3:c.133-1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X21,737,698 - 21,737,698CLINVAR
GRCh37X21,755,816 - 21,755,816CLINVAR
Cytogenetic MapXXp22.12CLINVAR
Trait Synonyms: DEAFNESS, NONSYNDROMIC SENSORINEURAL PROGRESSIVE 6; DEAFNESS, X-LINKED 6, PROGRESSIVE
Age Of Onset: childhood



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12892784
Created: 2017-05-09
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.