ClinVar

NM_014270.5(SLC7A9):c.978-18C>T

Gene:

SLC7A9:solute carrier family 7 member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 32843969 (on Assembly GRCh38)
• Chr19: 33334875 (on Assembly GRCh37)

Preferred name:

NM_014270.5(SLC7A9):c.978-18C>T

HGVS:

• NC_000019.10:g.32843969G>A
• NG_008258.1:g.30809C>T
• NM_001126335.2:c.978-18C>T
• NM_001243036.2:c.978-18C>T
• NM_014270.5:c.978-18C>TMANE SELECT
• NC_000019.9:g.33334875G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs200323617

NCBI 1000 Genomes Browser:

rs200323617

Molecular consequence:

• NM_001126335.2:c.978-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243036.2:c.978-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014270.5:c.978-18C>T - intron variant - [Sequence Ontology: SO:0001627]