Variant (rsID / SNP)

rs121912617

rs121912617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BHLHE41, SSPN. Location: chromosome 12, position 26,275,297. Clinical significance in the table: Affects.

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Reference-table entries

BHLHE41Other

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 12:26275297
Cytoband: 12p12.1
HGVS: NM_030762.3(BHLHE41):c.1151C>G (p.Pro384Arg)
Allele change: Missense_P384R

Associated conditions / phenotypes

Short sleep, familial natural, 1

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.