ClinVar

NM_001174089.2(SLC4A11):c.1283-14C>T

Gene:

SLC4A11:solute carrier family 4 member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3230661 (on Assembly GRCh38)
• Chr20: 3211307 (on Assembly GRCh37)

Preferred name:

NM_001174089.2(SLC4A11):c.1283-14C>T

HGVS:

• NC_000020.11:g.3230661G>A
• NG_017072.1:g.13581C>T
• NG_142274.1:g.909G>A
• NM_001174089.2:c.1283-14C>TMANE SELECT
• NM_001174090.2:c.1412-14C>T
• NM_001363745.2:c.1169-14C>T
• NM_001400277.1:c.1226-14C>T
• NM_001400278.1:c.1226-14C>T
• NM_001400279.1:c.1226-14C>T
• NM_001400280.1:c.1298-14C>T
• NM_032034.4:c.1331-14C>T
• NC_000020.10:g.3211307G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001174089.2:c.1283-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174090.2:c.1412-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363745.2:c.1169-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001400277.1:c.1226-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001400278.1:c.1226-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001400279.1:c.1226-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001400280.1:c.1298-14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_032034.4:c.1331-14C>T - intron variant - [Sequence Ontology: SO:0001627]