Variant (rsID / SNP)

rs1671152

rs1671152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GP6. Location: chromosome 19, position 55,526,345. Clinical significance in the table: Benign.

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Reference-table entries

GP6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:55526345
Cytoband: 19q13.42
HGVS: NM_001083899.2(GP6):c.968A>C (p.Lys323Thr)
Allele change: Missense_K323T

Associated conditions / phenotypes

Platelet-type bleeding disorder 11

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.