ClinVar

NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)

Gene:

HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 36765020 (on Assembly GRCh38)
• Chr21: 38137321 (on Assembly GRCh37)

Preferred name:

NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)

Other names:

p.E558K:GAG>AAG

HGVS:

• NC_000021.9:g.36765020C>T
• NG_016193.2:g.230375G>A
• NM_000411.8:c.1672G>A
• NM_001242784.3:c.1672G>A
• NM_001242785.2:c.1672G>A
• NM_001352514.2:c.2113G>AMANE SELECT
• NM_001352515.2:c.1672G>A
• NM_001352516.2:c.1672G>A
• NM_001352517.1:c.1672G>A
• NM_001352518.2:c.1672G>A
• NP_000402.3:p.Glu558Lys
• NP_001229713.1:p.Glu558Lys
• NP_001229714.1:p.Glu558Lys
• NP_001339443.1:p.Glu705Lys
• NP_001339444.1:p.Glu558Lys
• NP_001339445.1:p.Glu558Lys
• NP_001339446.1:p.Glu558Lys
• NP_001339447.1:p.Glu558Lys
• NC_000021.8:g.38137321C>T
• NM_000411.6:c.1672G>A
• NM_001242784.1:c.1672G>A
• NR_148020.2:n.1972G>A
• NR_148021.1:n.2129G>A

This HGVS expression did not pass validation

Protein change:

E558K

Links:

dbSNP: rs149736764

NCBI 1000 Genomes Browser:

rs149736764

Molecular consequence:

• NM_000411.8:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242784.3:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242785.2:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352514.2:c.2113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352515.2:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352516.2:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352517.1:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352518.2:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148020.2:n.1972G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148021.1:n.2129G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]