Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV101371 (NM_007214.5(SEC63):c.340-12_340-7delinsCCC) Homo sapiens

Symbol: CV101371
Name: NM_007214.5(SEC63):c.340-12_340-7delinsCCC
Condition: AllHighlyPenetrant [RCV000081498]|not specified [RCV000081498]|not specified [RCV000249402]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 08/14/2014
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: SEC63  
Variant Type: indel (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: clinical testing
HGVS Name(s): NG_008270.1:g.41358_41363delinsCCC
NC_000006.11:g.108243120_108243125delinsGGG
NM_007214.5:c.340-12_340-7delinsCCC
NC_000006.12:g.107921916_107921921delinsGGG
NM_007214.4:c.340-12_340-7delGTTTTTinsCCC
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,921,916 - 107,921,921CLINVAR
GRCh376108,243,120 - 108,243,125CLINVAR
Cytogenetic Map66q21CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642387
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.