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Variant : CV164984 (GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1) Homo sapiens

Symbol: CV164984
Name: GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1
Condition: See cases [RCV000143297]
Clinical Significance: likely pathogenic
Last Evaluated: 04/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCC5   ABCC5-AS1   ABCF3   ALG3   AP2M1   CAMK2N2   CHRD   CLCN2   DVL3   ECE2   EEF1AKMT4   EEF1AKMT4-ECE2   EIF2B5   EIF4G1   FAM131A   HTR3C   HTR3D   HTR3E   HTR3E-AS1   KLHL24   KLHL6   KLHL6-AS1   LINC02054   MAP6D1   MIR1224   MIR4448   PARL   POLR2H   PSMD2   SNORD66   THPO   VWA5B2   YEATS2   YEATS2-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_183521497)_(184472038_?)del
NC_000003.11:g.(?_183239285)_(184189826_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383183,521,497 - 184,472,038CLINVAR
GRCh373183,239,285 - 184,189,826CLINVAR
Build 363184,721,979 - 185,672,520CLINVAR
Cytogenetic Map33q27.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490895
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.