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Variant : CV413814 (NM_198270.4(NHS):c.4583C>A (p.Pro1528His)) Homo sapiens

Symbol: CV413814
Name: NM_198270.4(NHS):c.4583C>A (p.Pro1528His)
Condition: not provided [RCV000488139]
Clinical Significance: uncertain significance
Last Evaluated: 02/28/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.361735C>A
NC_000023.11:g.17732154C>A
NC_000023.10:g.17750274C>A
NP_938011.1:p.Pro1528His
NM_001291868.2:c.4052C>A
NM_001136024.4:c.4115C>A
NM_198270.4:c.4583C>A
NM_001291867.2:c.4646C>A
NP_001278797.1:p.Pro1351His
NP_001129496.1:p.Pro1372His
NP_001278796.1:p.Pro1549His
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,732,154 - 17,732,154CLINVAR
GRCh37X17,750,274 - 17,750,274CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12905888
Created: 2017-06-06
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.