ClinVar

NM_004006.3(DMD):c.1337A>G (p.His446Arg)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32614448 (on Assembly GRCh38)
• ChrX: 32632565 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.1337A>G (p.His446Arg)

Other names:

p.H446R:CAT>CGT

HGVS:

• NC_000023.11:g.32614448T>C
• NG_012232.1:g.730162A>G
• NM_000109.4:c.1313A>G
• NM_004006.3:c.1337A>GMANE SELECT
• NM_004009.3:c.1325A>G
• NM_004010.3:c.968A>G
• NP_000100.3:p.His438Arg
• NP_003997.1:p.His446Arg
• NP_003997.2:p.His446Arg
• NP_004000.1:p.His442Arg
• NP_004001.1:p.His323Arg
• LRG_199t1:c.1337A>G
• LRG_199:g.730162A>G
• LRG_199p1:p.His446Arg
• NC_000023.10:g.32632565T>C
• NM_004006.2:c.1337A>G

This HGVS expression did not pass validation

Protein change:

H323R

Links:

dbSNP: rs72468699

NCBI 1000 Genomes Browser:

rs72468699

Molecular consequence:

• NM_000109.4:c.1313A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004006.3:c.1337A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004009.3:c.1325A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004010.3:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1