Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV55237 (NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu)) Homo sapiens

Symbol: CV55237
Name: NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu)
Condition: AllHighlyPenetrant [RCV000039308]|Atypical Gaucher Disease [RCV000389375]|Combined saposin deficiency [RCV000261040]|Galactosylceramide beta-galactosidase deficiency [RCV000316294]|Metachromatic leukodystrophy [RCV000356182]|Nonsyndromic Hearing Loss, Recessive [RCV000271717]|Retinitis pigmentosa-deafness syndrome [RCV000363966]|not provided [RCV000086979]|not specified [RCV000039308]
Clinical Significance: benign|likely benign|not provided
Last Evaluated: 05/02/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: CDH23   PSAP  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: missense|5 prime utr variant|missense variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_022124.5:c.9373T>C
NG_008835.1:g.420062T>C
NC_000010.11:g.71812008T>C
NC_000010.10:g.73571765T>C
NM_022124.4:c.9373T>C
NP_071407.4:p.Phe3125Leu
c.9373T>C
NM_001171935.1:c.-284T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,812,008 - 71,812,008CLINVAR
GRCh371073,571,765 - 73,571,765CLINVAR
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: 8608934
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.