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Variant : CV322726 (NM_022124.5(CDH23):c.*204A>G) Homo sapiens

Symbol: CV322726
Name: NM_022124.5(CDH23):c.*204A>G
Condition: Atypical Gaucher Disease [RCV000390678]|Combined saposin deficiency [RCV000299894]|Galactosylceramide beta-galactosidase deficiency [RCV000338493]|Metachromatic leukodystrophy [RCV000298356]|Nonsyndromic Hearing Loss, Recessive [RCV000341473]|Retinitis pigmentosa-deafness syndrome [RCV000286621]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23   PSAP  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.*204A>G
NG_009301.1:g.40844T>C
NG_008835.1:g.423536A>G
NC_000010.11:g.71815482A>G
NC_000010.10:g.73575239A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,815,482 - 71,815,482CLINVAR
GRCh371073,575,239 - 73,575,239CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: Arylsulfatase A Deficiency; COMBINED SAP DEFICIENCY; Leukodystrophy, Globoid Cell; PROSAPOSIN DEFICIENCY; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8
Age Of Onset: adolescent|infancy
Prevalence: 1-9 / 1 000 000|1-9 / 100 000|<1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11665672
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-07-09
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.