ClinVar

NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

• Chr4: 127921758 (on Assembly GRCh38)
• Chr4: 128842913 (on Assembly GRCh37)

Preferred name:

NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys)

HGVS:

• NC_000004.12:g.127921758A>T
• NG_008657.1:g.49227T>A
• NM_001363520.3:c.915T>A
• NM_001363521.3:c.801T>A
• NM_001371590.2:c.981T>A
• NM_001371591.2:c.1116T>A
• NM_001371592.2:c.1122T>A
• NM_001371593.2:c.1002T>A
• NM_001371594.2:c.969T>A
• NM_001371595.1:c.834T>A
• NM_001371596.2:c.1116T>AMANE SELECT
• NM_001410765.1:c.666T>A
• NM_001410766.1:c.*1T>A
• NM_152778.4:c.1116T>A
• NP_001350449.1:p.Asn305Lys
• NP_001350449.1:p.Asn305Lys
• NP_001350450.1:p.Asn267Lys
• NP_001350450.1:p.Asn267Lys
• NP_001358519.1:p.Asn327Lys
• NP_001358519.1:p.Asn327Lys
• NP_001358520.1:p.Asn372Lys
• NP_001358520.1:p.Asn372Lys
• NP_001358521.1:p.Asn374Lys
• NP_001358521.1:p.Asn374Lys
• NP_001358522.1:p.Asn334Lys
• NP_001358522.1:p.Asn334Lys
• NP_001358523.1:p.Asn323Lys
• NP_001358523.1:p.Asn323Lys
• NP_001358524.1:p.Asn278Lys
• NP_001358525.1:p.Asn372Lys
• NP_001397694.1:p.Asn222Lys
• NP_689991.1:p.Asn372Lys
• LRG_833t1:c.1116T>A
• LRG_833t2:c.1116T>A
• LRG_833:g.49227T>A
• LRG_833p1:p.Asn372Lys
• LRG_833p2:p.Asn372Lys
• NC_000004.11:g.128842913A>T
• NM_001363520.2:c.915T>A
• NM_001363521.2:c.801T>A
• NM_001371590.1:c.981T>A
• NM_001371591.1:c.1116T>A
• NM_001371592.1:c.1122T>A
• NM_001371593.1:c.1002T>A
• NM_001371594.1:c.969T>A

This HGVS expression did not pass validation

Protein change:

N222K

Links:

dbSNP: rs758114648

NCBI 1000 Genomes Browser:

rs758114648

Molecular consequence:

• NM_001363520.3:c.915T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363521.3:c.801T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371590.2:c.981T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371591.2:c.1116T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371592.2:c.1122T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371593.2:c.1002T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371594.2:c.969T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371595.1:c.834T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371596.2:c.1116T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410765.1:c.666T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152778.4:c.1116T>A - missense variant - [Sequence Ontology: SO:0001583]