Variant (rsID / SNP)

rs61738567

rs61738567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,840,506. Clinical significance in the table: Benign.

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Reference-table entries

DYSFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:71840506
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly)
Allele change: Missense_D1445G

Associated conditions / phenotypes

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

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.