Display Settings:

Format

Send to:

Choose Destination
1.

rs397509412 [Homo sapiens]
    AAGCAGATCCGCTCCATCATCATGC[A/G]GGAGAACTTCATCCCCACCATCGTC
    Chromosome:
    14:102032419
    Gene:
    DYNC1H1 (GeneView)
    Functional Consequence:
    missense
    Allele Origin:
    G(germline)/A(de-novo,germline)
    Clinical significance:
    Pathogenic
    Validated:
    by cluster
    HGVS:
    NC_000014.8:g.102498756G>A, NC_000014.9:g.102032419G>A, NG_008777.1:g.72892G>A, NM_001376.4:c.10031G>A, NP_001367.2:p.Arg3344Gln

    Supplemental Content

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center