ClinVar

NM_002397.5(MEF2C):c.1202G>A (p.Arg401His)

Genes:

MEF2C-AS2:MEF2C antisense RNA 2 [Gene - HGNC]
MEF2C:myocyte enhancer factor 2C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

• Chr5: 88722824 (on Assembly GRCh38)
• Chr5: 88018641 (on Assembly GRCh37)

Preferred name:

NM_002397.5(MEF2C):c.1202G>A (p.Arg401His)

HGVS:

• NC_000005.10:g.88722824C>T
• NG_023427.1:g.186282G>A
• NM_001131005.2:c.1172G>A
• NM_001193347.1:c.1232G>A
• NM_001193348.1:c.1034G>A
• NM_001193349.3:c.962G>A
• NM_001193350.2:c.1202G>A
• NM_001308002.3:c.1178G>A
• NM_001363581.2:c.1106G>A
• NM_001364329.2:c.1202G>A
• NM_001364330.2:c.1202G>A
• NM_001364331.2:c.1202G>A
• NM_001364332.2:c.962G>A
• NM_001364333.2:c.1178G>A
• NM_001364334.2:c.1106G>A
• NM_001364335.2:c.1106G>A
• NM_001364336.2:c.1106G>A
• NM_001364337.2:c.1106G>A
• NM_001364338.2:c.1136G>A
• NM_001364339.2:c.1082G>A
• NM_001364340.2:c.1082G>A
• NM_001364341.2:c.1082G>A
• NM_001364342.2:c.1082G>A
• NM_001364343.2:c.1076G>A
• NM_001364344.2:c.1058G>A
• NM_001364345.2:c.1104G>A
• NM_001364346.2:c.1104G>A
• NM_001364347.2:c.1104G>A
• NM_001364348.2:c.1080G>A
• NM_001364349.2:c.1080G>A
• NM_001364350.2:c.1080G>A
• NM_001364352.2:c.1074G>A
• NM_001364353.2:c.824G>A
• NM_001364354.2:c.960G>A
• NM_001364355.2:c.960G>A
• NM_001364356.2:c.728G>A
• NM_001364357.2:c.656G>A
• NM_002397.5:c.1202G>AMANE SELECT
• NP_001124477.1:p.Arg391His
• NP_001180276.1:p.Arg411His
• NP_001180277.1:p.Arg345His
• NP_001180278.1:p.Arg321His
• NP_001180279.1:p.Arg401His
• NP_001294931.1:p.Arg393His
• NP_001350510.1:p.Arg369His
• NP_001351258.1:p.Arg401His
• NP_001351259.1:p.Arg401His
• NP_001351260.1:p.Arg401His
• NP_001351261.1:p.Arg321His
• NP_001351262.1:p.Arg393His
• NP_001351263.1:p.Arg369His
• NP_001351264.1:p.Arg369His
• NP_001351265.1:p.Arg369His
• NP_001351266.1:p.Arg369His
• NP_001351267.1:p.Arg379His
• NP_001351268.1:p.Arg361His
• NP_001351269.1:p.Arg361His
• NP_001351270.1:p.Arg361His
• NP_001351271.1:p.Arg361His
• NP_001351272.1:p.Arg359His
• NP_001351273.1:p.Arg353His
• NP_001351274.1:p.Pro368=
• NP_001351275.1:p.Pro368=
• NP_001351276.1:p.Pro368=
• NP_001351277.1:p.Pro360=
• NP_001351278.1:p.Pro360=
• NP_001351279.1:p.Pro360=
• NP_001351281.1:p.Pro358=
• NP_001351282.1:p.Arg275His
• NP_001351283.1:p.Pro320=
• NP_001351284.1:p.Pro320=
• NP_001351285.1:p.Arg243His
• NP_001351286.1:p.Arg219His
• NP_002388.2:p.Arg401His
• NC_000005.9:g.88018641C>T
• NM_002397.3:c.1202G>A
• NR_146284.1:n.456C>T

This HGVS expression did not pass validation

Protein change:

R219H

Links:

dbSNP: rs2152045243

NCBI 1000 Genomes Browser:

rs2152045243

Molecular consequence:

• NM_001131005.2:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193347.1:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193348.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193349.3:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193350.2:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308002.3:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363581.2:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364329.2:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364330.2:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364331.2:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364332.2:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364333.2:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364334.2:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364335.2:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364336.2:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364337.2:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364338.2:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364339.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364340.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364341.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364342.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364343.2:c.1076G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364344.2:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364353.2:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364356.2:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364357.2:c.656G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002397.5:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146284.1:n.456C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001364345.2:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364346.2:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364347.2:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364348.2:c.1080G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364349.2:c.1080G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364350.2:c.1080G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364352.2:c.1074G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364354.2:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364355.2:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]