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Variant : CV431529 (NM_022124.5(CDH23):c.6344G>A (p.Arg2115His)) Homo sapiens

Symbol: CV431529
Name: NM_022124.5(CDH23):c.6344G>A (p.Arg2115His)
Condition: PITUITARY ADENOMA 5, MULTIPLE TYPES [RCV000504590]|Somatotroph adenoma [RCV000504590]
Clinical Significance: pathogenic
Last Evaluated: 09/26/2017
Review Status: no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NG_008835.1:g.401326G>A
NC_000010.11:g.71793272G>A
NC_000010.10:g.73553029G>A
NP_071407.4:p.Arg2115His
NM_022124.5:c.6344G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,272 - 71,793,272CLINVAR
GRCh371073,553,029 - 73,553,029CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13217405
Created: 2017-09-12
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.