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Variant : CV316010 (NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp)) Homo sapiens

Symbol: CV316010
Name: NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp)
Condition: Atypical Gaucher Disease [RCV000298268]|CDH23-Related Disorders [RCV000313005]|Combined saposin deficiency [RCV000404504]|Galactosylceramide beta-galactosidase deficiency [RCV000406507]|Metachromatic leukodystrophy [RCV000350786]|Nonsyndromic Hearing Loss, Recessive [RCV000367632]|Retinitis pigmentosa-deafness syndrome [RCV000263857]|not specified [RCV000612885]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 06/26/2017
Review Status: criteria provided, single submitter
Related Genes: CDH23   PSAP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.9860G>A
NG_009301.1:g.41253C>T
NG_008835.1:g.423127G>A
NC_000010.11:g.71815073G>A
NC_000010.10:g.73574830G>A
NP_071407.4:p.Gly3287Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,815,073 - 71,815,073CLINVAR
GRCh371073,574,830 - 73,574,830CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11665295
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-07-16
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.