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Variant : CV74563 (GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1) Homo sapiens

Symbol: CV74563
Name: GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1
Condition: Narrow face [RCV000053839]|See cases [RCV000053839]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACOT11   BSND   C1orf87   C8A   C8B   CDCP2   CYB5RL   CYP2J2   DAB1   DAB1-AS1   DHCR24   DIO1   FAM151A   FGGY   FYB2   GLIS1   HOOK1   HSPB11   JUN   LDLRAD1   LEXM   LINC01135   LINC01358   LINC01748   LINC01753   LINC01755   LINC01767   LINC02777   LINC02784   LRRC42   MIR4422   MIR4422HG   MIR4711   MIR4781   MROH7   MROH7-TTC4   MRPL37   MYSM1   NDC1   NFIA   NFIA-AS1   NFIA-AS2   OMA1   PARS2   PCSK9   PLPP3   PRKAA2   SSBP3   SSBP3-AS1   TACSTD2   TCEANC2   TMEM59   TMEM61   TTC22   TTC4   USP24   YIPF1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_53738212)_(61439648_?)del
Human AssemblyChrPosition (strand)Source
GRCh38153,738,212 - 61,439,648CLINVAR
GRCh37154,203,885 - 61,905,320CLINVAR
Build 36153,976,473 - 61,677,908CLINVAR
Cytogenetic Map11p32.3-31.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620754
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


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