ClinVar

NM_013352.4(DSE):c.1004G>A (p.Arg335His)

Gene:

DSE:dermatan sulfate epimerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.1

Genomic location:

• Chr6: 116433436 (on Assembly GRCh38)
• Chr6: 116754599 (on Assembly GRCh37)

Preferred name:

NM_013352.4(DSE):c.1004G>A (p.Arg335His)

HGVS:

• NC_000006.12:g.116433436G>A
• NG_033266.3:g.184285G>A
• NM_001080976.3:c.1004G>A
• NM_001322937.2:c.1004G>A
• NM_001322938.2:c.1004G>A
• NM_001322939.2:c.1061G>A
• NM_001322940.2:c.443G>A
• NM_001322941.2:c.443G>A
• NM_001322943.2:c.671-2151G>A
• NM_001322944.2:c.911-2151G>A
• NM_013352.4:c.1004G>AMANE SELECT
• NP_001074445.1:p.Arg335His
• NP_001309866.1:p.Arg335His
• NP_001309867.1:p.Arg335His
• NP_001309868.1:p.Arg354His
• NP_001309869.1:p.Arg148His
• NP_001309870.1:p.Arg148His
• NP_037484.1:p.Arg335His
• LRG_1184t1:c.1004G>A
• LRG_1184p1:p.Arg335His
• NC_000006.11:g.116754599G>A
• NM_013352.2:c.1004G>A

This HGVS expression did not pass validation

Protein change:

R148H

Links:

dbSNP: rs371480627

NCBI 1000 Genomes Browser:

rs371480627

Molecular consequence:

• NM_001322943.2:c.671-2151G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322944.2:c.911-2151G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001080976.3:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322937.2:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322938.2:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322939.2:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322940.2:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322941.2:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013352.4:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]