Variant (rsID / SNP)

rs34911705

rs34911705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPDZ. Location: chromosome 9, position 13,219,603. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MPDZConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:13219603
Cytoband: 9p23
HGVS: NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe)
Allele change: Missense_L347F

Associated conditions / phenotypes

Hydrocephalus, nonsyndromic, autosomal recessive 2

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.