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NM_015548.5(DST):c.645A>T (p.Ser215=) AND Neuropathy, hereditary sensory and autonomic, type VI

Significance: Conflicting interpretations of pathogenicity
ClinVar: RCV000276848

Variant: NM_015548.5(DST):c.645A>T (p.Ser215=)

Type: Variant
Allele: NM_015548.5(DST):c.645A>T (p.Ser215=) 308409
Gene:
Type: single nucleotide variant
Location: Chr6: 56640377 - assembly GRCh38
Chr6: 56505175 - assembly GRCh37
References: dbSNP: 113432929
Illumina Clinical Services Laboratory,Illumina: 57659

Condition

Disease: Neuropathy, hereditary sensory and autonomic, type VI