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Variant (rsID / SNP)

rs375168720

DDHD2

rs375168720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDHD2. Location: chromosome 8, position 38,111,160. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DDHD2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:38111160
Cytoband
8p11.23
HGVS
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
Allele change
Missense_D660H

Associated conditions / phenotypes

Hereditary spastic paraplegia 54|Generalized epilepsy|Global developmental delay|Obesity|Hereditary spastic paraplegia

Public references

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