Variant (rsID / SNP)

rs73390504

rs73390504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC1. Location: chromosome 12, position 102,079,385. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYBPC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:102079385
Cytoband: 12q23.2
HGVS: NM_002465.4(MYBPC1):c.*45C>T
Allele change: Silent

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.