Variant (rsID / SNP)

rs34297640

rs34297640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGFALS. Location: chromosome 16, position 1,841,499. Clinical significance in the table: Likely benign.

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Reference-table entries

IGFALSLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:1841499
Cytoband: 16p13.3
HGVS: NM_004970.3(IGFALS):c.920C>T (p.Pro307Leu)
Allele change: Silent

Associated conditions / phenotypes

Short stature due to primary acid-labile subunit 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.