Variant (rsID / SNP)

rs140936904

rs140936904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAFAH1B1. Location: chromosome 17, position 2,570,480. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PAFAH1B1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:2570480
Cytoband: 17p13.3
HGVS: NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
Allele change: Synonymous_D129D

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.