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Variant : CV102526 (NM_198270.4(NHS):c.1902T>G (p.Pro634=)) Homo sapiens

Symbol: CV102526
Name: NM_198270.4(NHS):c.1902T>G (p.Pro634=)
Condition: History of neurodevelopmental disorder [RCV000716963]|Neurodevelopmental [RCV000716963]|not specified [RCV000082795]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 07/12/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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_001291868.2:c.1371T>G
NM_001136024.4:c.1434T>G
NM_198270.4:c.1902T>G
NM_001291867.2:c.1965T>G
NM_198270.3:c.1902T>G
NP_938011.1:p.(=)
NP_001278797.1:p.Pro457=
NP_001129496.1:p.Pro478=
NP_001278796.1:p.Pro655=
NP_938011.1:p.(=)
NC_000023.11:g.17726071T>G
NC_000023.10:g.17744191T>G
NM_198270.2:c.1902T>G
NP_938011.1:p.(=)
NP_938011.1:p.Pro634=
NG_011553.2:g.355652T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,071 - 17,726,071CLINVAR
GRCh37X17,744,191 - 17,744,191CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643543
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.