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Variant : CV171686 (NM_198270.4(NHS):c.2141G>A (p.Arg714His)) Homo sapiens

Symbol: CV171686
Name: NM_198270.4(NHS):c.2141G>A (p.Arg714His)
Condition: History of neurodevelopmental disorder [RCV000718571]|Malignant tumor of prostate [RCV000149387]|Neurodevelopmental [RCV000718571]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 04/21/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_001291868.2:c.1610G>A
NM_198270.4:c.2141G>A
NM_001291867.2:c.2204G>A
NP_001278797.1:p.Arg537His
NP_001129496.1:p.Arg558His
NP_001278796.1:p.Arg735His
NM_001136024.4:c.1673G>A
NG_011553.2:g.355891G>A
NC_000023.11:g.17726310G>A
NC_000023.10:g.17744430G>A
NM_198270.2:c.2141G>A
NP_938011.1:p.Arg714His
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,310 - 17,726,310CLINVAR
GRCh37X17,744,430 - 17,744,430CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: Prostate cancer; Prostatic cancer
Age Of Onset: adulthood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9687168
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-09-10
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.