ClinVar

NM_005984.5(SLC25A1):c.632-18C>T

Gene:

SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19176711 (on Assembly GRCh38)
• Chr22: 19164224 (on Assembly GRCh37)

Preferred name:

NM_005984.5(SLC25A1):c.632-18C>T

HGVS:

• NC_000022.11:g.19176711G>A
• NG_033863.1:g.7153C>T
• NM_001256534.2:c.653-18C>T
• NM_001287387.2:c.323-18C>T
• NM_005984.5:c.632-18C>TMANE SELECT
• NC_000022.10:g.19164224G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2146143038

NCBI 1000 Genomes Browser:

rs2146143038

Molecular consequence:

• NM_001256534.2:c.653-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287387.2:c.323-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005984.5:c.632-18C>T - intron variant - [Sequence Ontology: SO:0001627]