Variant (rsID / SNP)

rs386834008

rs386834008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIM37. Location: chromosome 17, position 57,141,716. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRIM37Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:57141716
Cytoband: 17q22
HGVS: NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
Allele change: Missense_S287N

Associated conditions / phenotypes

Mulibrey nanism syndrome

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.