Variant (rsID / SNP)

rs587776972

rs587776972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC7A. Location: chromosome 2, position 47,300,953. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TTC7ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:47300953
Cytoband: 2p21
HGVS: NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)
Allele change: Missense_L789P

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.