Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs377674001

SLC2A1

rs377674001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,395,680. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC2A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:43395680
Cytoband
1p34.2
HGVS
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)
Allele change
Synonymous_G181G

Associated conditions / phenotypes

Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.