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Variant : CV196086 (NM_198270.4(NHS):c.4720A>C (p.Thr1574Pro)) Homo sapiens

Symbol: CV196086
Name: NM_198270.4(NHS):c.4720A>C (p.Thr1574Pro)
Condition: not specified [RCV000180386]
Clinical Significance: uncertain significance
Last Evaluated: 11/20/2017
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.4189A>C
NM_001136024.4:c.4252A>C
NM_198270.4:c.4720A>C
NM_001291867.2:c.4783A>C
NP_001278797.1:p.Thr1397Pro
NP_001129496.1:p.Thr1418Pro
NP_001278796.1:p.Thr1595Pro
NG_011553.2:g.361872A>C
NC_000023.11:g.17732291A>C
NC_000023.10:g.17750411A>C
NP_938011.1:p.Thr1574Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,732,291 - 17,732,291CLINVAR
GRCh37X17,750,411 - 17,750,411CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10053305
Created: 2015-07-14
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.