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Variant : CV665289 (NM_032273.4(TMEM126A):c.280+203T>C) Homo sapiens

Symbol: CV665289
Name: NM_032273.4(TMEM126A):c.280+203T>C
Condition: not provided [RCV000832582]
Clinical Significance: benign
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_032273.4:c.280+203T>C
NM_001244735.1:c.70+203T>C
NG_017157.1:g.11541T>C
NG_017157.2:g.11541T>C
NC_000011.10:g.85654459T>C
NC_000011.9:g.85365503T>C
NM_032273.3:c.280+203T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,654,459 - 85,654,459CLINVAR
GRCh371185,365,503 - 85,365,503CLINVAR
Cytogenetic Map1111q14.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14723550
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-03-24
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.