Variant (rsID / SNP)

rs797045141

rs797045141 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HERC1. Location: chromosome 15, position 63,988,540. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HERC1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:63988540
Cytoband: 15q22.31
HGVS: NM_003922.4(HERC1):c.4906-2A>C
Allele change: Silent

Associated conditions / phenotypes

Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability|Macrocephaly, dysmorphic facies, and psychomotor retardation

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.