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Variant : CV102533 (NM_198270.4(NHS):c.3866G>T (p.Gly1289Val)) Homo sapiens

Symbol: CV102533
Name: NM_198270.4(NHS):c.3866G>T (p.Gly1289Val)
Condition: Nance-Horan syndrome [RCV000638456]|not provided [RCV000082802]|not specified [RCV000194958]
Clinical Significance: benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/14/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NP_938011.1:p.Gly1289Val
NP_938011.1:p.Gly1289Val
NP_001278796.1:p.Gly1310Val
NM_001291868.2:c.3335G>T
NM_001136024.4:c.3398G>T
NM_198270.4:c.3866G>T
NM_001291867.2:c.3929G>T
NM_198270.3:c.3866G>T
NP_001278797.1:p.Gly1112Val
NP_001129496.1:p.Gly1133Val
NP_938011.1:p.Gly1289Val
NC_000023.11:g.17728035G>T
NC_000023.10:g.17746155G>T
NM_198270.2:c.3866G>T
NP_938011.1:p.Gly1289Val
NG_011553.2:g.357616G>T
NG_011553.1:g.357613G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,035 - 17,728,035CLINVAR
GRCh37X17,746,155 - 17,746,155CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643550
Created: 2014-05-13
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.