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Variant : CV167261 (NM_002737.2(PRKCA):c.206-81404_206-10168del) Homo sapiens

Symbol: CV167261
Name: NM_002737.2(PRKCA):c.206-81404_206-10168del
Condition: Large for gestational age [RCV000161827]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PRKCA   PRKCA-AS1  
Variant Type: deletion (SO:0000159)
Molecular Consequence: intron variant
Evidence: case-control
HGVS Name(s): NC_000017.11:g.66414797_66486033del
Human AssemblyChrPosition (strand)Source
GRCh381766,414,797 - 66,486,033CLINVAR
GRCh371764,410,915 - 64,482,151CLINVAR
Cytogenetic Map1717q24.2CLINVAR
Trait Synonyms: Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Macrosomia; Macrosomia, neonatal

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9832031
Created: 2015-03-10
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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