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Variant (rsID / SNP)

rs145770066

MED25

rs145770066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED25. Location: chromosome 19, position 50,334,047. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MED25Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:50334047
Cytoband
19q13.33
HGVS
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
Allele change
Missense_A335V

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome|Toe walking

Public references

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