Variant (rsID / SNP)

rs139010200

rs139010200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC7A. Location: chromosome 2, position 47,273,468. 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: 2:47273468
Cytoband: 2p21
HGVS: NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)
Allele change: Missense_K572R

Associated conditions / phenotypes

Multiple gastrointestinal atresias

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.