Variant (rsID / SNP)

rs201774571

rs201774571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPDL. Location: chromosome 4, position 83,350,596. Clinical significance in the table: Likely benign.

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Reference-table entries

HNRNPDLLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:83350596
Cytoband: 4q21.22
HGVS: NM_031372.4(HNRNPDL):c.248C>T (p.Pro83Leu)
Allele change: Missense_P83L

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.