Variant (rsID / SNP)

rs370898100

rs370898100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,562,731. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SUCLA2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:48562731
Cytoband: 13q14.2
HGVS: NM_003850.3(SUCLA2):c.479G>A (p.Arg160Gln)
Allele change: Missense_R160L

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.