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Variant (rsID / SNP)

rs371157406

MED25

rs371157406 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED25. Location: chromosome 19, position 50,339,605. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MED25Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:50339605
Cytoband
19q13.33
HGVS
NM_030973.4(MED25):c.2088G>A (p.Leu696=)
Allele change
Synonymous_L696L

Associated conditions / phenotypes

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

Public references

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