ClinVar

NM_017875.4(SLC25A38):c.69+218G>T

Genes:

LOC129936512:ATAC-STARR-seq lymphoblastoid active region 19706 [Gene]
SLC25A38:solute carrier family 25 member 38 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

• Chr3: 39384011 (on Assembly GRCh38)
• Chr3: 39425502 (on Assembly GRCh37)

Preferred name:

NM_017875.4(SLC25A38):c.69+218G>T

HGVS:

• NC_000003.12:g.39384011G>T
• NG_016931.1:g.5688G>T
• NM_001354798.2:c.69+218G>T
• NM_017875.4:c.69+218G>TMANE SELECT
• LRG_1133t1:c.69+218G>T
• LRG_1133:g.5688G>T
• NC_000003.11:g.39425502G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150907810

NCBI 1000 Genomes Browser:

rs150907810

Molecular consequence:

• NM_001354798.2:c.69+218G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_017875.4:c.69+218G>T - intron variant - [Sequence Ontology: SO:0001627]