Variant (rsID / SNP)

rs148770543

rs148770543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFAP5. Location: chromosome 12, position 8,800,767. Clinical significance in the table: Likely benign.

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Reference-table entries

MFAP5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:8800767
Cytoband: 12p13.31
HGVS: NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)
Allele change: Missense_P126S

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.