ClinVar

NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)

Gene:

SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128618060 (on Assembly GRCh38)
• Chr9: 131380339 (on Assembly GRCh37)

Preferred name:

NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)

Other names:

p.A1851V:GCG>GTG

HGVS:

• NC_000009.12:g.128618060C>T
• NG_027748.1:g.70503C>T
• NM_001130438.3:c.5552C>TMANE SELECT
• NM_001195532.2:c.5477C>T
• NM_001363759.2:c.5552C>T
• NM_001363765.2:c.5492C>T
• NM_003127.4:c.5537C>T
• NP_001123910.1:p.Ala1851Val
• NP_001182461.1:p.Ala1826Val
• NP_001350688.1:p.Ala1851Val
• NP_001350694.1:p.Ala1831Val
• NP_003118.2:p.Ala1846Val
• NC_000009.11:g.131380339C>T
• NM_001130438.2:c.5552C>T

This HGVS expression did not pass validation

Protein change:

A1826V

Links:

dbSNP: rs11543347

NCBI 1000 Genomes Browser:

rs11543347

Molecular consequence:

• NM_001130438.3:c.5552C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195532.2:c.5477C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363759.2:c.5552C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363765.2:c.5492C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003127.4:c.5537C>T - missense variant - [Sequence Ontology: SO:0001583]