Variant (rsID / SNP)

rs142339349

rs142339349 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EHHADH. Location: chromosome 3, position 184,953,127. Clinical significance in the table: Benign.

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Reference-table entries

EHHADHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:184953127
Cytoband: 3q27.2
HGVS: NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu)
Allele change: Missense_G101E

Associated conditions / phenotypes

Fanconi renotubular syndrome 3

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.