Variant (rsID / SNP)

rs121908192

rs121908192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFER. Location: chromosome 16, position 2,035,992. Clinical significance in the table: Pathogenic.

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Reference-table entries

GFERPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:2035992
Cytoband: 16p13.3
HGVS: NM_005262.3(GFER):c.581G>A (p.Arg194His)
Allele change: Missense_R194H

Associated conditions / phenotypes

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome|Inborn genetic diseases

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.