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Variant : CV254372 (NM_139319.3(SLC17A8):c.354+16T>C) Homo sapiens

Symbol: CV254372
Name: NM_139319.3(SLC17A8):c.354+16T>C
Condition: not specified [RCV000247233]
Clinical Significance: likely benign
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: SLC17A8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_021175.1:g.28891T>C
NC_000012.12:g.100380969T>C
NC_000012.11:g.100774747T>C
NM_001145288.2:c.354+16T>C
NM_139319.3:c.354+16T>C
NM_139319.2:c.354+16T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3812100,380,969 - 100,380,969CLINVAR
GRCh3712100,774,747 - 100,774,747CLINVAR
Cytogenetic Map1212q23.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11547033
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.