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Variant : CV211208 (NM_032861.4(SERAC1):c.1501+3_1501+6del) Homo sapiens

Symbol: CV211208
Name: NM_032861.4(SERAC1):c.1501+3_1501+6del
Condition: not provided [RCV000199156]
Clinical Significance: likely pathogenic
Last Evaluated: 04/11/2017
Review Status: criteria provided, single submitter
Related Genes: SERAC1  
Variant Type: deletion (SO:0001575)
Source: CLINVAR
Molecular Consequence: intron variant|splice donor variant
Evidence: clinical testing
HGVS Name(s): NM_032861.4:c.1501+3_1501+6del
NG_032889.1:g.57099_57102del
NM_032861.3:c.1501+3_1501+6delAAGT
NC_000006.12:g.158116181_158116184del
NC_000006.11:g.158537213_158537216del
NM_032861.3:c.1501+3_1501+6delAAGT
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,116,179 - 158,116,182CLINVAR
GRCh376158,537,211 - 158,537,214CLINVAR
Cytogenetic Map66q25.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10410912
Created: 2015-11-10
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.