ClinVar

NM_001352514.2(HLCS):c.737A>T (p.Tyr246Phe)

Gene:

HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 36937149 (on Assembly GRCh38)
• Chr21: 38309449 (on Assembly GRCh37)

Preferred name:

NM_001352514.2(HLCS):c.737A>T (p.Tyr246Phe)

HGVS:

• NC_000021.9:g.36937149T>A
• NG_016193.2:g.58246A>T
• NM_000411.8:c.296A>T
• NM_001242784.3:c.296A>T
• NM_001242785.2:c.296A>T
• NM_001352514.2:c.737A>TMANE SELECT
• NM_001352515.2:c.296A>T
• NM_001352516.2:c.296A>T
• NM_001352517.1:c.296A>T
• NM_001352518.2:c.296A>T
• NP_000402.3:p.Tyr99Phe
• NP_001229713.1:p.Tyr99Phe
• NP_001229714.1:p.Tyr99Phe
• NP_001339443.1:p.Tyr246Phe
• NP_001339444.1:p.Tyr99Phe
• NP_001339445.1:p.Tyr99Phe
• NP_001339446.1:p.Tyr99Phe
• NP_001339447.1:p.Tyr99Phe
• NC_000021.8:g.38309449T>A
• NM_000411.6:c.296A>T
• NR_148020.2:n.596A>T
• NR_148021.1:n.753A>T

This HGVS expression did not pass validation

Protein change:

Y246F

Molecular consequence:

• NM_000411.8:c.296A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242784.3:c.296A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242785.2:c.296A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352514.2:c.737A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352515.2:c.296A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352516.2:c.296A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352517.1:c.296A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352518.2:c.296A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148020.2:n.596A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148021.1:n.753A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]