ClinVar

NM_001352514.2(HLCS):c.2122-30G>A

Gene:

HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 36759871 (on Assembly GRCh38)
• Chr21: 38132172 (on Assembly GRCh37)

Preferred name:

NM_001352514.2(HLCS):c.2122-30G>A

HGVS:

• NC_000021.9:g.36759871C>T
• NG_016193.2:g.235524G>A
• NM_000411.8:c.1681-30G>A
• NM_001242784.3:c.1681-30G>A
• NM_001242785.2:c.1681-30G>A
• NM_001352514.2:c.2122-30G>AMANE SELECT
• NM_001352515.2:c.1681-30G>A
• NM_001352516.2:c.1681-30G>A
• NM_001352517.1:c.1681-30G>A
• NM_001352518.2:c.1681-30G>A
• NC_000021.8:g.38132172C>T
• NM_000411.6:c.1681-30G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2073420

NCBI 1000 Genomes Browser:

rs2073420

Molecular consequence:

• NM_000411.8:c.1681-30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242784.3:c.1681-30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242785.2:c.1681-30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352514.2:c.2122-30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352515.2:c.1681-30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352516.2:c.1681-30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352517.1:c.1681-30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352518.2:c.1681-30G>A - intron variant - [Sequence Ontology: SO:0001627]