Variant (rsID / SNP)

rs138864377

rs138864377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HABP2. Location: chromosome 10, position 115,341,743. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HABP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:115341743
Cytoband: 10q25.3
HGVS: NM_004132.5(HABP2):c.947G>A (p.Gly316Glu)
Allele change: Missense_G290E

Associated conditions / phenotypes

Factor VII Marburg I Variant Thrombophilia

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.