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Variant (rsID / SNP)

rs142274954

PTCH1

rs142274954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,240,378. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PTCH1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:98240378
Cytoband
9q22.32
HGVS
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
Allele change
Missense_D285N

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 1|Anophthalmia-microphthalmia syndrome|Hereditary cancer-predisposing syndrome|Gorlin syndrome|Holoprosencephaly 7

Public references

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