ClinVar

NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38554314 (on Assembly GRCh38)
• Chr3: 38595805 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr)

Other names:

NP_001092874.1:p.(Ile1593Thr)

HGVS:

• NC_000003.12:g.38554314A>G
• NG_008934.1:g.100359T>C
• NM_000335.5:c.4775T>CMANE SELECT
• NM_001099404.2:c.4778T>C
• NM_001099405.2:c.4724T>C
• NM_001160160.2:c.4714+61T>C
• NM_001160161.2:c.4616T>C
• NM_001354701.2:c.4721T>C
• NM_198056.3:c.4778T>C
• NP_000326.2:p.Ile1592Thr
• NP_000326.2:p.Ile1592Thr
• NP_001092874.1:p.Ile1593Thr
• NP_001092874.1:p.Ile1593Thr
• NP_001092875.1:p.Ile1575Thr
• NP_001153633.1:p.Ile1539Thr
• NP_001341630.1:p.Ile1574Thr
• NP_932173.1:p.Ile1593Thr
• NP_932173.1:p.Ile1593Thr
• LRG_289t1:c.4778T>C
• LRG_289t2:c.4775T>C
• LRG_289t3:c.4778T>C
• LRG_289:g.100359T>C
• LRG_289p1:p.Ile1593Thr
• LRG_289p2:p.Ile1592Thr
• LRG_289p3:p.Ile1593Thr
• NC_000003.11:g.38595805A>G
• NM_000335.4:c.4775T>C
• NM_001099404.1:c.4778T>C
• NM_198056.2:c.4778T>C
• NR_176299.1:n.5524T>C

This HGVS expression did not pass validation

Protein change:

I1539T

Molecular consequence:

• NM_001160160.2:c.4714+61T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.4775T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4778T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4724T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4721T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4778T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_176299.1:n.5524T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]