Variant (rsID / SNP)

rs886042805

rs886042805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC7A. Location: chromosome 2, position 47,177,603. Clinical significance in the table: Pathogenic.

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Reference-table entries

TTC7APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:47177603
Cytoband: 2p21
HGVS: NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter)
Allele change: Nonsense_E62X

Associated conditions / phenotypes

Gastrointestinal defects and immunodeficiency syndrome 1

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.