Variant (rsID / SNP)

rs148536791

rs148536791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDHD2. Location: chromosome 8, position 38,111,229. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DDHD2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:38111229
Cytoband: 8p11.23
HGVS: NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser)
Allele change: Missense_C683S

Associated conditions / phenotypes

Hereditary spastic paraplegia 54|Hereditary spastic paraplegia

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.