Variant (rsID / SNP)

rs142863601

rs142863601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,741,341. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BBS10Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:76741341
Cytoband: 12q21.2
HGVS: NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
Allele change: Missense_D142N

Associated conditions / phenotypes

Bardet-Biedl syndrome 1|Bardet-Biedl syndrome|Bardet-Biedl syndrome 10

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.