Variant (rsID / SNP)

rs137996815

rs137996815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDHA. Location: chromosome 11, position 18,427,062. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LDHABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:18427062
Cytoband: 11p15.1
HGVS: NM_005566.4(LDHA):c.777G>A (p.Leu259=)
Allele change: Silent

Associated conditions / phenotypes

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

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.