ClinVar

NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550671 (on Assembly GRCh38)
• Chr3: 38592162 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln)

HGVS:

• NC_000003.12:g.38550671C>G
• NG_008934.1:g.104002G>C
• NM_000335.5:c.5698G>CMANE SELECT
• NM_001099404.2:c.5701G>C
• NM_001099405.2:c.5647G>C
• NM_001160160.2:c.5602G>C
• NM_001160161.2:c.5539G>C
• NM_001354701.2:c.5644G>C
• NM_198056.3:c.5701G>C
• NP_000326.2:p.Glu1900Gln
• NP_001092874.1:p.Glu1901Gln
• NP_001092875.1:p.Glu1883Gln
• NP_001153632.1:p.Glu1868Gln
• NP_001153633.1:p.Glu1847Gln
• NP_001341630.1:p.Glu1882Gln
• NP_932173.1:p.Glu1901Gln
• NP_932173.1:p.Glu1901Gln
• LRG_289t1:c.5701G>C
• LRG_289:g.104002G>C
• LRG_289p1:p.Glu1901Gln
• NC_000003.11:g.38592162C>G
• NM_198056.2:c.5701G>C

This HGVS expression did not pass validation

Protein change:

E1847Q

Links:

dbSNP: rs199473325

NCBI 1000 Genomes Browser:

rs199473325

Molecular consequence:

• NM_000335.5:c.5698G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5701G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5647G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5602G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5539G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5644G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5701G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2