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Links from MedGen

Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:4833691
GRCh38:
Chr16:4783690
SEPTIN12D197N, D151NSpermatogenic failure 10risk factor
(Apr 1, 2012)
no assertion criteria provided
2.
GRCh37:
Chr16:4836007
GRCh38:
Chr16:4786006
SEPTIN12T89MSpermatogenic failure 10risk factor
(Apr 1, 2012)
no assertion criteria provided
3.
GRCh37:
Chr16:4833970
GRCh38:
Chr16:4783969
SEPTIN12not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
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