ClinVar

NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128618031 (on Assembly GRCh38)
• Chr9: 131380310 (on Assembly GRCh37)

Preferred name:

NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=)

Other names:

p.I1841I:ATC>ATT

HGVS:

• NC_000009.12:g.128618031C>T
• NG_027748.1:g.70474C>T
• NM_001130438.3:c.5523C>TMANE SELECT
• NM_001195532.2:c.5448C>T
• NM_001363759.2:c.5523C>T
• NM_001363765.2:c.5463C>T
• NM_003127.4:c.5508C>T
• NP_001123910.1:p.Ile1841=
• NP_001182461.1:p.Ile1816=
• NP_001350688.1:p.Ile1841=
• NP_001350694.1:p.Ile1821=
• NP_003118.2:p.Ile1836=
• NC_000009.11:g.131380310C>T
• NM_001130438.1:c.5523C>T
• NM_001130438.2:c.5523C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs79569204

NCBI 1000 Genomes Browser:

rs79569204

Molecular consequence:

• NM_001130438.3:c.5523C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195532.2:c.5448C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363759.2:c.5523C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363765.2:c.5463C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003127.4:c.5508C>T - synonymous variant - [Sequence Ontology: SO:0001819]