ClinVar

NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

• Chr4: 127921927 (on Assembly GRCh38)
• Chr4: 128843082 (on Assembly GRCh37)

Preferred name:

NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=)

HGVS:

• NC_000004.12:g.127921927G>A
• NG_008657.1:g.49058C>T
• NM_001363520.3:c.834C>T
• NM_001363521.3:c.720C>T
• NM_001371590.2:c.900C>T
• NM_001371591.2:c.1035C>T
• NM_001371592.2:c.1041C>T
• NM_001371593.2:c.921C>T
• NM_001371594.2:c.888C>T
• NM_001371595.1:c.753C>T
• NM_001371596.2:c.1035C>TMANE SELECT
• NM_001410765.1:c.585C>T
• NM_001410766.1:c.885-156C>T
• NM_152778.4:c.1035C>T
• NP_001350449.1:p.Ile278=
• NP_001350450.1:p.Ile240=
• NP_001358519.1:p.Ile300=
• NP_001358520.1:p.Ile345=
• NP_001358521.1:p.Ile347=
• NP_001358522.1:p.Ile307=
• NP_001358523.1:p.Ile296=
• NP_001358524.1:p.Ile251=
• NP_001358525.1:p.Ile345=
• NP_001397694.1:p.Ile195=
• NP_689991.1:p.Ile345=
• LRG_833t1:c.1035C>T
• LRG_833t2:c.1035C>T
• LRG_833:g.49058C>T
• LRG_833p1:p.Ile345=
• LRG_833p2:p.Ile345=
• NC_000004.11:g.128843082G>A
• NM_152778.2:c.1035C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141422574

NCBI 1000 Genomes Browser:

rs141422574

Molecular consequence:

• NM_001410766.1:c.885-156C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363520.3:c.834C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363521.3:c.720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371590.2:c.900C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371591.2:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371592.2:c.1041C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371593.2:c.921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371594.2:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371595.1:c.753C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371596.2:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410765.1:c.585C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152778.4:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]