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Variant : CV431528 (NM_022124.5(CDH23):c.4136G>T (p.Arg1379Leu)) Homo sapiens

Symbol: CV431528
Name: NM_022124.5(CDH23):c.4136G>T (p.Arg1379Leu)
Condition: PITUITARY ADENOMA 5, MULTIPLE TYPES [RCV000504588]|PITUITARY ADENOMA, MULTIPLE TYPES [RCV000504588]
Clinical Significance: pathogenic
Last Evaluated: 09/26/2017
Review Status: no assertion criteria provided
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NG_008835.1:g.342325G>T
NC_000010.11:g.71734271G>T
NC_000010.10:g.73494028G>T
NP_071407.4:p.Arg1379Leu
NM_022124.5:c.4136G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,734,271 - 71,734,271CLINVAR
GRCh371073,494,028 - 73,494,028CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13217403
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.