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Variant : CV381101 (GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1) Homo sapiens

Symbol: CV381101
Name: GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1
Condition: See cases [RCV000446718]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ANKEF1   BMP2   BTBD3   CDS2   CHGB   CRLS1   FERMT1   GPCPD1   HAO1   JAG1   LAMP5   LRRN4   MCM8   MKKS   PAK5   PCNA   PCNA-AS1   PLCB1   PLCB4   PRND   PRNP   PROKR2   RASSF2   SHLD1   SLC23A2   SLX4IP   SNAP25   TMEM230   TMX4   TRMT6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37204,392,930 - 12,667,768CLINVAR
Cytogenetic Map2020p13-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851441
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.