ClinVar

NM_006363.6(SEC23B):c.2153G>A (p.Arg718Gln)

Gene:

SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p11.23

Genomic location:

• Chr20: 18555112 (on Assembly GRCh38)
• Chr20: 18535756 (on Assembly GRCh37)

Preferred name:

NM_006363.6(SEC23B):c.2153G>A (p.Arg718Gln)

HGVS:

• NC_000020.11:g.18555112G>A
• NG_016281.2:g.52631G>A
• NM_001172745.3:c.2153G>A
• NM_001172746.3:c.2099G>A
• NM_006363.6:c.2153G>AMANE SELECT
• NM_032985.6:c.2153G>A
• NM_032986.5:c.2153G>A
• NP_001166216.1:p.Arg718Gln
• NP_001166217.1:p.Arg700Gln
• NP_006354.2:p.Arg718Gln
• NP_116780.1:p.Arg718Gln
• NP_116781.1:p.Arg718Gln
• LRG_1134t1:c.2153G>A
• LRG_1134:g.52631G>A
• LRG_1134p1:p.Arg718Gln
• NC_000020.10:g.18535756G>A

This HGVS expression did not pass validation

Protein change:

R700Q

Links:

dbSNP: rs1443733304

NCBI 1000 Genomes Browser:

rs1443733304

Molecular consequence:

• NM_001172745.3:c.2153G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172746.3:c.2099G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006363.6:c.2153G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032985.6:c.2153G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032986.5:c.2153G>A - missense variant - [Sequence Ontology: SO:0001583]