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Variant : CV707561 (NM_001215.4(CA6):c.210C>T (p.Gly70=)) Homo sapiens

Symbol: CV707561
Name: NM_001215.4(CA6):c.210C>T (p.Gly70=)
Condition: not provided [RCV000966726]
Clinical Significance: benign
Last Evaluated: 06/13/2018
Review Status: criteria provided, single submitter
Related Genes: CA6  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.8949393C>T
NC_000001.10:g.9009452C>T
NM_001215.3:c.210C>T
NP_001206.2:p.Gly70=
NP_001257429.1:p.Gly70=
NM_001215.4:c.210C>T
NM_001270500.2:c.210C>T
NM_001270502.2:c.24+3428C>T
NM_001270501.2:c.79+3428C>T
NG_033975.1:g.8560C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3818,949,393 - 8,949,393CLINVAR
GRCh3719,009,452 - 9,009,452CLINVAR
Cytogenetic Map11p36.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15143786
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-31
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.