Variant (rsID / SNP)

rs200595389

rs200595389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPDL. Location: chromosome 4, position 83,350,599. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HNRNPDLLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:83350599
Cytoband: 4q21.22
HGVS: NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu)
Allele change: Missense_R82L

Associated conditions / phenotypes

Autosomal dominant limb-girdle muscular dystrophy type 1G

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.