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Variant : CV430755 (NM_198270.4(NHS):c.4104T>C (p.Ser1368=)) Homo sapiens

Symbol: CV430755
Name: NM_198270.4(NHS):c.4104T>C (p.Ser1368=)
Condition: not specified [RCV000501873]
Clinical Significance: likely benign
Last Evaluated: 04/26/2017
Review Status: 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): NG_011553.2:g.357854T>C
NC_000023.11:g.17728273T>C
NC_000023.10:g.17746393T>C
NM_198270.2:c.4104T>C
NP_938011.1:p.Ser1368=
NM_198270.4:c.4104T>C
NM_001291867.2:c.4167T>C
NP_001278797.1:p.Ser1191=
NP_001129496.1:p.Ser1212=
NP_001278796.1:p.Ser1389=
NM_001291868.2:c.3573T>C
NM_001136024.4:c.3636T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,273 - 17,728,273CLINVAR
GRCh37X17,746,393 - 17,746,393CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13214945
Created: 2017-09-12
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.