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Variant (rsID / SNP)

rs112301354

TTC7A

rs112301354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC7A. Location: chromosome 2, position 47,177,506. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTC7AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:47177506
Cytoband
2p21
HGVS
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu)
Allele change
Missense_D29E

Associated conditions / phenotypes

Multiple gastrointestinal atresias

Public references

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