ClinVar

NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)

Gene:

SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112088966 (on Assembly GRCh38)
• Chr11: 111959690 (on Assembly GRCh37)

Preferred name:

NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)

HGVS:

• NC_000011.10:g.112088966C>A
• NG_012337.3:g.7120C>A
• NG_033145.1:g.2833G>T
• NM_001276503.2:c.169+993C>A
• NM_001276504.2:c.152C>A
• NM_001276506.2:c.269C>A
• NM_003002.4:c.269C>AMANE SELECT
• NP_001263433.1:p.Ala51Glu
• NP_001263435.1:p.Ala90Glu
• NP_002993.1:p.Ala90Glu
• LRG_9t1:c.269C>A
• LRG_9:g.7120C>A
• LRG_9p1:p.Ala90Glu
• NC_000011.9:g.111959690C>A
• NM_003002.2:c.269C>A
• NM_003002.3:c.269C>A
• NR_077060.2:n.304C>A

This HGVS expression did not pass validation

Protein change:

A51E

Links:

dbSNP: rs200255724

NCBI 1000 Genomes Browser:

rs200255724

Molecular consequence:

• NM_001276503.2:c.169+993C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276504.2:c.152C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276506.2:c.269C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003002.4:c.269C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_077060.2:n.304C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]