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Variant : CV436327 (GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1) Homo sapiens

Symbol: CV436327
Name: GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1
Condition: See cases [RCV000511230]
Clinical Significance: likely pathogenic
Last Evaluated: 03/16/2015
Review Status: no assertion criteria provided
Related Genes: ABHD8   ANKLE1   ANO8   AP1M1   BABAM1   C19orf44   CALR3   CHERP   CIB3   CPAMD8   CYP4F11   CYP4F2   DDA1   EPS15L1   F2RL3   FAM32A   GTPBP3   HAUS8   HSH2D   KLF2   MED26   MRPL34   MYO9B   NR2F6   NWD1   OCEL1   OR10H4   PLVAP   RAB8A   SIN3B   SLC35E1   SMIM7   TMEM38A   TPM4   UCA1   USE1   USHBP1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371915,921,132 - 17,479,860CLINVAR
Cytogenetic Map1919p13.12-13.11CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13444205
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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