Variant (rsID / SNP)

rs4134932

rs4134932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4M1, TAF6. Location: chromosome 7, position 99,704,448. Clinical significance in the table: Benign.

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Reference-table entries

AP4M1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:99704448
Cytoband: 7q22.1
HGVS: NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)
Allele change: Synonymous_N435N

Associated conditions / phenotypes

Hereditary spastic paraplegia 50|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.