Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142062146

IGHMBP2

rs142062146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,696,654. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

IGHMBP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:68696654
Cytoband
11q13.3
HGVS
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
Allele change
Missense_A355V

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2S|Autosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1|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.