ClinVar

NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

• Chr4: 127921721 (on Assembly GRCh38)
• Chr4: 128842876 (on Assembly GRCh37)

Preferred name:

NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)

Other names:

p.G385R:GGT>CGT

HGVS:

• NC_000004.12:g.127921721C>G
• NG_008657.1:g.49264G>C
• NM_001363520.3:c.952G>C
• NM_001363521.3:c.838G>C
• NM_001371590.2:c.1018G>C
• NM_001371591.2:c.1153G>C
• NM_001371592.2:c.1159G>C
• NM_001371593.2:c.1039G>C
• NM_001371594.2:c.1006G>C
• NM_001371595.1:c.871G>C
• NM_001371596.2:c.1153G>CMANE SELECT
• NM_001410765.1:c.703G>C
• NM_001410766.1:c.*38G>C
• NM_152778.4:c.1153G>C
• NP_001350449.1:p.Gly318Arg
• NP_001350449.1:p.Gly318Arg
• NP_001350450.1:p.Gly280Arg
• NP_001350450.1:p.Gly280Arg
• NP_001358519.1:p.Gly340Arg
• NP_001358519.1:p.Gly340Arg
• NP_001358520.1:p.Gly385Arg
• NP_001358520.1:p.Gly385Arg
• NP_001358521.1:p.Gly387Arg
• NP_001358521.1:p.Gly387Arg
• NP_001358522.1:p.Gly347Arg
• NP_001358522.1:p.Gly347Arg
• NP_001358523.1:p.Gly336Arg
• NP_001358523.1:p.Gly336Arg
• NP_001358524.1:p.Gly291Arg
• NP_001358525.1:p.Gly385Arg
• NP_001397694.1:p.Gly235Arg
• NP_689991.1:p.Gly385Arg
• NP_689991.1:p.Gly385Arg
• LRG_833t1:c.1153G>C
• LRG_833t2:c.1153G>C
• LRG_833:g.49264G>C
• LRG_833p1:p.Gly385Arg
• LRG_833p2:p.Gly385Arg
• NC_000004.11:g.128842876C>G
• NM_001363520.2:c.952G>C
• NM_001363521.2:c.838G>C
• NM_001371590.1:c.1018G>C
• NM_001371591.1:c.1153G>C
• NM_001371592.1:c.1159G>C
• NM_001371593.1:c.1039G>C
• NM_001371594.1:c.1006G>C
• NM_152778.2:c.1153G>C
• NM_152778.3:c.1153G>C
• Q8NHS3:p.Gly385Arg

This HGVS expression did not pass validation

Protein change:

G235R

Links:

UniProtKB: Q8NHS3#VAR_037178; dbSNP: rs11098943

NCBI 1000 Genomes Browser:

rs11098943

Molecular consequence:

• NM_001363520.3:c.952G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363521.3:c.838G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371590.2:c.1018G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371591.2:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371592.2:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371593.2:c.1039G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371594.2:c.1006G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371595.1:c.871G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371596.2:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410765.1:c.703G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152778.4:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]