Variant (rsID / SNP)

rs201472372

rs201472372 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC1. Location: chromosome 12, position 101,988,865. Clinical significance in the table: Benign.

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Reference-table entries

MYBPC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:101988865
Cytoband: 12q23.2
HGVS: NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met)
Allele change: Missense_K6M

Associated conditions / phenotypes

Arthrogryposis, distal, type 1B

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.