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Variant : CV135220 (NM_198270.4(NHS):c.3138T>C (p.Ser1046=)) Homo sapiens

Symbol: CV135220
Name: NM_198270.4(NHS):c.3138T>C (p.Ser1046=)
Condition: AllHighlyPenetrant [RCV000117790]|History of neurodevelopmental disorder [RCV000715645]|Nance-Horan syndrome [RCV000555315]|Neurodevelopmental [RCV000715645]|not specified [RCV000117790]
Clinical Significance: benign|likely benign
Last Evaluated: 07/26/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
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.2607T>C
NM_001136024.4:c.2670T>C
NM_198270.4:c.3138T>C
NM_198270.3:c.3138T>C
NP_001278796.1:p.Ser1067=
NP_001129496.1:p.Ser890=
NP_001278797.1:p.Ser869=
NM_001291867.2:c.3201T>C
NC_000023.11:g.17727307T>C
NC_000023.10:g.17745427T>C
NM_198270.2:c.3138T>C
NP_938011.1:p.Ser1046=
NG_011553.2:g.356888T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,307 - 17,727,307CLINVAR
GRCh37X17,745,427 - 17,745,427CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660205
Created: 2014-06-10
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.