Variant (rsID / SNP)

rs72549407

rs72549407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HYCC1, FAM126A. Location: chromosome 7, position 23,018,063. Clinical significance in the table: Pathogenic.

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Reference-table entries

HYCC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:23018063
Cytoband: 7p15.3
HGVS: NM_032581.4(HYCC1):c.158T>C (p.Leu53Pro)
Allele change: Missense_L53P

Associated conditions / phenotypes

Hypomyelination and Congenital Cataract

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.