ClinVar

NM_001371596.2(MFSD8):c.1278A>G (p.Ile426Met)

Gene:

MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

• Chr4: 127921596 (on Assembly GRCh38)
• Chr4: 128842751 (on Assembly GRCh37)

Preferred name:

NM_001371596.2(MFSD8):c.1278A>G (p.Ile426Met)

HGVS:

• NC_000004.12:g.127921596T>C
• NG_008657.1:g.49389A>G
• NM_001363520.3:c.1077A>G
• NM_001363521.3:c.963A>G
• NM_001371590.2:c.1143A>G
• NM_001371591.2:c.1278A>G
• NM_001371592.2:c.1284A>G
• NM_001371593.2:c.1164A>G
• NM_001371594.2:c.1131A>G
• NM_001371595.1:c.996A>G
• NM_001371596.2:c.1278A>GMANE SELECT
• NM_001410765.1:c.828A>G
• NM_001410766.1:c.*163A>G
• NM_152778.4:c.1278A>G
• NP_001350449.1:p.Ile359Met
• NP_001350449.1:p.Ile359Met
• NP_001350450.1:p.Ile321Met
• NP_001350450.1:p.Ile321Met
• NP_001358519.1:p.Ile381Met
• NP_001358519.1:p.Ile381Met
• NP_001358520.1:p.Ile426Met
• NP_001358520.1:p.Ile426Met
• NP_001358521.1:p.Ile428Met
• NP_001358521.1:p.Ile428Met
• NP_001358522.1:p.Ile388Met
• NP_001358522.1:p.Ile388Met
• NP_001358523.1:p.Ile377Met
• NP_001358523.1:p.Ile377Met
• NP_001358524.1:p.Ile332Met
• NP_001358525.1:p.Ile426Met
• NP_001397694.1:p.Ile276Met
• NP_689991.1:p.Ile426Met
• NP_689991.1:p.Ile426Met
• LRG_833t1:c.1278A>G
• LRG_833t2:c.1278A>G
• LRG_833:g.49389A>G
• LRG_833p1:p.Ile426Met
• LRG_833p2:p.Ile426Met
• NC_000004.11:g.128842751T>C
• NM_001363520.2:c.1077A>G
• NM_001363521.2:c.963A>G
• NM_001371590.1:c.1143A>G
• NM_001371591.1:c.1278A>G
• NM_001371592.1:c.1284A>G
• NM_001371593.1:c.1164A>G
• NM_001371594.1:c.1131A>G
• NM_152778.2:c.1278A>G
• NM_152778.3:c.1278A>G

This HGVS expression did not pass validation

Protein change:

I276M

Links:

dbSNP: rs769272117

NCBI 1000 Genomes Browser:

rs769272117

Molecular consequence:

• NM_001363520.3:c.1077A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363521.3:c.963A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371590.2:c.1143A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371591.2:c.1278A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371592.2:c.1284A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371593.2:c.1164A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371594.2:c.1131A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371595.1:c.996A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371596.2:c.1278A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410765.1:c.828A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_152778.4:c.1278A>G - missense variant - [Sequence Ontology: SO:0001583]