ClinVar

NM_001164277.2(SLC37A4):c.148+1G>A

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119029221 (on Assembly GRCh38)
• Chr11: 118899931 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.148+1G>A

HGVS:

• NC_000011.10:g.119029221C>T
• NG_013331.1:g.6686G>A
• NM_001164277.2:c.148+1G>AMANE SELECT
• NM_001164278.2:c.148+1G>A
• NM_001164279.2:c.-172+171G>A
• NM_001164280.2:c.148+1G>A
• NM_001467.6:c.148+1G>A
• LRG_187:g.6686G>A
• NC_000011.9:g.118899931C>T

This HGVS expression did not pass validation

Note:

NCBI staff provided an HGVS expression for allelic variant 602671.0005 from the sequence reported in Figure 3 of the paper by Kure et al., 1998 (PubMed 9675154).

Nucleotide change:

IVS1, G-A, +1

Links:

OMIM: 602671.0005; OMIM: 602671.0012; dbSNP: rs1943672400

NCBI 1000 Genomes Browser:

rs1943672400

Molecular consequence:

• NM_001164279.2:c.-172+171G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164277.2:c.148+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001164278.2:c.148+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001164280.2:c.148+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001467.6:c.148+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]