Variant (rsID / SNP)

rs1078749

rs1078749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNB4. Location: chromosome 3, position 179,143,941. Clinical significance in the table: Benign.

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Reference-table entries

GNB4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:179143941
Cytoband: 3q26.33
HGVS: NM_021629.4(GNB4):c.48T>C (p.Asn16=)
Allele change: Synonymous_N16N

Associated conditions / phenotypes

Charcot-Marie-Tooth disease dominant intermediate F

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.