Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs34999029

DYSF

rs34999029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,740,897. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DYSFConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:71740897
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
Allele change
Missense_A170E

Associated conditions / phenotypes

Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.