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Variant (rsID / SNP)

rs2073817

SARDH

rs2073817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SARDH. Location: chromosome 9, position 136,559,460. The table records no clinical significance for this variant.

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Reference-table entries

SARDHNot classified
Variant type
missense_variant
Chromosome / position
9:136559460
HGVS
NM_001134707.2,c.1841G>A,p.Arg614His
Allele change
Missense_R614H

Associated conditions / phenotypes

Neural Tube Defects

Public references

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