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Variant : CV391316 (NM_001365999.1(SZT2):c.9970-9C>T) Homo sapiens

Symbol: CV391316
Name: NM_001365999.1(SZT2):c.9970-9C>T
Condition: not provided [RCV000464156]
Clinical Significance: likely benign
Last Evaluated: 08/31/2018
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.63719C>T
NC_000001.11:g.43448603C>T
NC_000001.10:g.43914274C>T
NM_015284.4:c.9799-9C>T
NM_001365999.1:c.9970-9C>T
NR_046744.1:n.42G>A
NR_106793.1:n.65C>T
NM_015284.3:c.9799-9C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38143,448,603 - 43,448,603CLINVAR
GRCh37143,914,274 - 43,914,274CLINVAR
Cytogenetic Map11p34.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12897554
Created: 2017-05-09
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.