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Variant : CV177868 (NM_198270.4(NHS):c.618G>A (p.Pro206=)) Homo sapiens

Symbol: CV177868
Name: NM_198270.4(NHS):c.618G>A (p.Pro206=)
Condition: not specified [RCV000153565]
Clinical Significance: uncertain significance
Last Evaluated: 04/11/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001291867.2:c.618G>A
NM_198270.4:c.618G>A
NM_001136024.4:c.87G>A
NM_001291868.2:c.87G>A
NP_001278796.1:p.Pro206=
NP_001129496.1:p.Pro29=
NP_001278797.1:p.Pro29=
NG_011553.2:g.317375G>A
NC_000023.11:g.17687794G>A
NC_000023.10:g.17705914G>A
NP_938011.1:p.(=)
NP_938011.1:p.Pro206=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,687,794 - 17,687,794CLINVAR
GRCh37X17,705,914 - 17,705,914CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9693116
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.