ClinVar

NM_001371596.2(MFSD8):c.1350G>A (p.Gln450=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

• Chr4: 127921524 (on Assembly GRCh38)
• Chr4: 128842679 (on Assembly GRCh37)

Preferred name:

NM_001371596.2(MFSD8):c.1350G>A (p.Gln450=)

Other names:

p.Q450Q:CAG>CAA; NM_001371596.2:c.1350G>A

HGVS:

• NC_000004.12:g.127921524C>T
• NG_008657.1:g.49461G>A
• NM_001363520.3:c.1149G>A
• NM_001363521.3:c.1035G>A
• NM_001371590.2:c.1215G>A
• NM_001371591.2:c.1350G>A
• NM_001371592.2:c.1356G>A
• NM_001371593.2:c.1236G>A
• NM_001371594.2:c.1203G>A
• NM_001371595.1:c.1068G>A
• NM_001371596.2:c.1350G>AMANE SELECT
• NM_001410765.1:c.900G>A
• NM_001410766.1:c.*235G>A
• NM_152778.4:c.1350G>A
• NP_001350449.1:p.Gln383=
• NP_001350450.1:p.Gln345=
• NP_001358519.1:p.Gln405=
• NP_001358520.1:p.Gln450=
• NP_001358521.1:p.Gln452=
• NP_001358522.1:p.Gln412=
• NP_001358523.1:p.Gln401=
• NP_001358524.1:p.Gln356=
• NP_001358525.1:p.Gln450=
• NP_001397694.1:p.Gln300=
• NP_689991.1:p.Gln450=
• LRG_833t1:c.1350G>A
• LRG_833t2:c.1350G>A
• LRG_833:g.49461G>A
• LRG_833p1:p.Gln450=
• LRG_833p2:p.Gln450=
• NC_000004.11:g.128842679C>T
• NM_152778.2:c.1350G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs796052738

NCBI 1000 Genomes Browser:

rs796052738

Molecular consequence:

• NM_001410766.1:c.*235G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001363520.3:c.1149G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363521.3:c.1035G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371590.2:c.1215G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371591.2:c.1350G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371592.2:c.1356G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371593.2:c.1236G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371594.2:c.1203G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371595.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371596.2:c.1350G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410765.1:c.900G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152778.4:c.1350G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

• Intron inclusion between exons 11 & 12, based on review of RNA-seq in TCGA-DR-A0ZM-01A tumor which has MFSD8 NM_001371596.2:c.1350G>A variant