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Variant (rsID / SNP)

rs139398993

ENG

rs139398993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,588,920. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ENGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:130588920
Cytoband
9q34.11
HGVS
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
Allele change
Missense_P131L

Associated conditions / phenotypes

Haemorrhagic telangiectasia 1|Telangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia|Galloway-Mowat syndrome 1

Public references

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