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Variant : CV238296 (NM_001365999.1(SZT2):c.9970-7C>G) Homo sapiens

Symbol: CV238296
Name: NM_001365999.1(SZT2):c.9970-7C>G
Condition: not provided [RCV000228267]
Clinical Significance: likely benign
Last Evaluated: 09/02/2018
Review Status: criteria provided, single submitter
Related Genes: MIR6735   SZT2   SZT2-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_029091.1:g.63721C>G
NC_000001.11:g.43448605C>G
NC_000001.10:g.43914276C>G
NR_106793.1:n.67C>G
NM_015284.4:c.9799-7C>G
NM_001365999.1:c.9970-7C>G
NR_046744.1:n.40G>C
NM_015284.3:c.9799-7C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38143,448,605 - 43,448,605CLINVAR
GRCh37143,914,276 - 43,914,276CLINVAR
Cytogenetic Map11p34.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11348840
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-07-21
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.