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Variant (rsID / SNP)

rs116841148

LDHA

rs116841148 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDHA. Location: chromosome 11, position 18,424,407. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LDHAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:18424407
Cytoband
11p15.1
HGVS
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
Allele change
Missense_A147S

Associated conditions / phenotypes

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Public references

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