ClinVar

NM_003562.5(SLC25A11):c.738-20C>A

Gene:

SLC25A11:solute carrier family 25 member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 4938094 (on Assembly GRCh38)
• Chr17: 4841389 (on Assembly GRCh37)

Preferred name:

NM_003562.5(SLC25A11):c.738-20C>A

HGVS:

• NC_000017.11:g.4938094G>T
• NG_135295.1:g.393G>T
• NM_001165417.2:c.705-20C>A
• NM_001165418.2:c.585-20C>A
• NM_003562.5:c.738-20C>AMANE SELECT
• NC_000017.10:g.4841389G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001165417.2:c.705-20C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001165418.2:c.585-20C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003562.5:c.738-20C>A - intron variant - [Sequence Ontology: SO:0001627]