ClinVar

NM_006859.4(LIAS):c.173C>A (p.Thr58Asn)

Gene:

LIAS:lipoic acid synthetase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p14

Genomic location:

• Chr4: 39460917 (on Assembly GRCh38)
• Chr4: 39462537 (on Assembly GRCh37)

Preferred name:

NM_006859.4(LIAS):c.173C>A (p.Thr58Asn)

HGVS:

• NC_000004.12:g.39460917C>A
• NG_032111.1:g.6873C>A
• NG_052985.1:g.3032G>T
• NM_001278590.2:c.173C>A
• NM_001278591.2:c.173C>A
• NM_001278592.2:c.173C>A
• NM_001363700.2:c.173C>A
• NM_006859.4:c.173C>AMANE SELECT
• NM_194451.3:c.173C>A
• NP_001265519.1:p.Thr58Asn
• NP_001265520.1:p.Thr58Asn
• NP_001265521.1:p.Thr58Asn
• NP_001350629.1:p.Thr58Asn
• NP_006850.2:p.Thr58Asn
• NP_919433.1:p.Thr58Asn
• LRG_1142:g.3032G>T
• NC_000004.11:g.39462537C>A

This HGVS expression did not pass validation

Protein change:

T58N

Links:

dbSNP: rs141723499

NCBI 1000 Genomes Browser:

rs141723499

Molecular consequence:

• NM_001278590.2:c.173C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278591.2:c.173C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278592.2:c.173C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363700.2:c.173C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006859.4:c.173C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194451.3:c.173C>A - missense variant - [Sequence Ontology: SO:0001583]