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Variant : CV205337 (NM_198270.4(NHS):c.1112G>A (p.Arg371Gln)) Homo sapiens

Symbol: CV205337
Name: NM_198270.4(NHS):c.1112G>A (p.Arg371Gln)
Condition: Inborn genetic diseases [RCV000190792]|Multiple congenital anomalies [RCV000190792]|not specified [RCV000594957]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 01/11/2017
Review Status: 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
HGVS Name(s): NM_198270.4:c.1112G>A
NM_001291867.2:c.1175G>A
NM_001291868.2:c.581G>A
NM_001136024.4:c.644G>A
NP_001278797.1:p.Arg194Gln
NP_001129496.1:p.Arg215Gln
NP_001278796.1:p.Arg392Gln
NG_011553.2:g.353946G>A
NC_000023.11:g.17724365G>A
NC_000023.10:g.17742485G>A
NM_198270.2:c.1112G>A
NP_938011.1:p.Arg371Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,365 - 17,724,365CLINVAR
GRCh37X17,742,485 - 17,742,485CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10401581
Created: 2015-10-06
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.