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Variant : CV446598 (NM_198270.4(NHS):c.2554C>T (p.Pro852Ser)) Homo sapiens

Symbol: CV446598
Name: NM_198270.4(NHS):c.2554C>T (p.Pro852Ser)
Condition: not specified [RCV000519933]
Clinical Significance: uncertain significance
Last Evaluated: 04/09/2018
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001291868.2:c.2023C>T
NM_001136024.4:c.2086C>T
NM_198270.4:c.2554C>T
NM_001291867.2:c.2617C>T
NP_001278797.1:p.Pro675Ser
NP_001278796.1:p.Pro873Ser
NG_011553.2:g.356304C>T
NM_198270.2:c.2554C>T
NC_000023.11:g.17726723C>T
NC_000023.10:g.17744843C>T
NP_938011.1:p.Pro852Ser
NP_001129496.1:p.Pro696Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,723 - 17,726,723CLINVAR
GRCh37X17,744,843 - 17,744,843CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13475622
Created: 2018-01-09
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.