Variant (rsID / SNP)

rs1131603

rs1131603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCN2. Location: chromosome 22, position 31,018,975. Clinical significance in the table: Benign.

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Reference-table entries

TCN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:31018975
Cytoband: 22q12.2
HGVS: NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser)
Allele change: Missense_L376S

Associated conditions / phenotypes

Transcobalamin II deficiency

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.