Variant (rsID / SNP)

rs149481147

rs149481147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SARDH. Location: chromosome 9, position 136,594,942. Clinical significance in the table: Affects.

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Reference-table entries

SARDHOther

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 9:136594942
Cytoband: 9q34.2
HGVS: NM_001134707.2(SARDH):c.860C>T (p.Pro287Leu)
Allele change: Missense_P287L

Associated conditions / phenotypes

Sarcosine dehydrogenase deficiency

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.