ClinVar

NM_001352514.2(HLCS):c.969C>T (p.Leu323=)

Gene:

HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 36936917 (on Assembly GRCh38)
• Chr21: 38309217 (on Assembly GRCh37)

Preferred name:

NM_001352514.2(HLCS):c.969C>T (p.Leu323=)

HGVS:

• NC_000021.9:g.36936917G>A
• NG_016193.2:g.58478C>T
• NM_000411.8:c.528C>T
• NM_001242784.3:c.528C>T
• NM_001242785.2:c.528C>T
• NM_001352514.2:c.969C>TMANE SELECT
• NM_001352515.2:c.528C>T
• NM_001352516.2:c.528C>T
• NM_001352517.1:c.528C>T
• NM_001352518.2:c.528C>T
• NP_000402.3:p.Leu176=
• NP_001229713.1:p.Leu176=
• NP_001229714.1:p.Leu176=
• NP_001339443.1:p.Leu323=
• NP_001339444.1:p.Leu176=
• NP_001339445.1:p.Leu176=
• NP_001339446.1:p.Leu176=
• NP_001339447.1:p.Leu176=
• NC_000021.8:g.38309217G>A
• NR_148020.2:n.828C>T
• NR_148021.1:n.985C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1458636068

NCBI 1000 Genomes Browser:

rs1458636068

Molecular consequence:

• NR_148020.2:n.828C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148021.1:n.985C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000411.8:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242784.3:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242785.2:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352514.2:c.969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352515.2:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352516.2:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352517.1:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352518.2:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]