Variant (rsID / SNP)

rs104894047

rs104894047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHH. Location: chromosome 7, position 155,596,114. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SHHBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:155596114
Cytoband: 7q36.3
HGVS: NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
Allele change: Silent

Associated conditions / phenotypes

Holoprosencephaly 3|Schizencephaly

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.