ClinVar

NM_001354604.2(MITF):c.1487C>T (p.Thr496Ile)

Gene:

MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p13

Genomic location:

• Chr3: 69965154 (on Assembly GRCh38)
• Chr3: 70014305 (on Assembly GRCh37)

Preferred name:

NM_001354604.2(MITF):c.1487C>T (p.Thr496Ile)

HGVS:

• NC_000003.12:g.69965154C>T
• NG_011631.1:g.230673C>T
• NM_000248.4:c.1166C>T
• NM_001184967.2:c.1313C>T
• NM_001354604.2:c.1487C>TMANE SELECT
• NM_001354605.2:c.1484C>T
• NM_001354606.2:c.1466C>T
• NM_001354607.2:c.1418C>T
• NM_001354608.2:c.1313C>T
• NM_006722.3:c.1466C>T
• NM_198158.3:c.1148C>T
• NM_198159.3:c.1469C>T
• NM_198177.3:c.1421C>T
• NM_198178.3:c.980C>T
• NP_000239.1:p.Thr389Ile
• NP_001171896.1:p.Thr438Ile
• NP_001341533.1:p.Thr496Ile
• NP_001341534.1:p.Thr495Ile
• NP_001341535.1:p.Thr489Ile
• NP_001341536.1:p.Thr473Ile
• NP_001341537.1:p.Thr438Ile
• NP_006713.1:p.Thr489Ile
• NP_937801.1:p.Thr383Ile
• NP_937802.1:p.Thr490Ile
• NP_937820.1:p.Thr474Ile
• NP_937821.2:p.Thr327Ile
• LRG_776t1:c.1166C>T
• LRG_776:g.230673C>T
• NC_000003.11:g.70014305C>T
• NM_000248.3:c.1166C>T

This HGVS expression did not pass validation

Protein change:

T327I

Links:

dbSNP: rs748527966

NCBI 1000 Genomes Browser:

rs748527966

Molecular consequence:

• NM_000248.4:c.1166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184967.2:c.1313C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354604.2:c.1487C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354605.2:c.1484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354606.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354607.2:c.1418C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354608.2:c.1313C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006722.3:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198158.3:c.1148C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198159.3:c.1469C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198177.3:c.1421C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198178.3:c.980C>T - missense variant - [Sequence Ontology: SO:0001583]