ClinVar

NM_015214.3(DDHD2):c.558G>A (p.Thr186=)

Gene:

DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.23

Genomic location:

• Chr8: 38238145 (on Assembly GRCh38)
• Chr8: 38095663 (on Assembly GRCh37)

Preferred name:

NM_015214.3(DDHD2):c.558G>A (p.Thr186=)

HGVS:

• NC_000008.11:g.38238145G>A
• NG_033875.1:g.11655G>A
• NM_001164232.2:c.558G>A
• NM_001164234.2:c.558G>A
• NM_001362911.2:c.558G>A
• NM_001362912.2:c.558G>A
• NM_001362913.2:c.558G>A
• NM_001362914.2:c.558G>A
• NM_015214.3:c.558G>AMANE SELECT
• NP_001157704.1:p.Thr186=
• NP_001157706.1:p.Thr186=
• NP_001349840.1:p.Thr186=
• NP_001349841.1:p.Thr186=
• NP_001349842.1:p.Thr186=
• NP_001349843.1:p.Thr186=
• NP_056029.2:p.Thr186=
• NC_000008.10:g.38095663G>A
• NM_015214.2:c.558G>A
• NR_156416.2:n.841G>A
• NR_156417.2:n.841G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs149994413

NCBI 1000 Genomes Browser:

rs149994413

Molecular consequence:

• NR_156416.2:n.841G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_156417.2:n.841G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001164232.2:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164234.2:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362911.2:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362912.2:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362913.2:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362914.2:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015214.3:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]