ClinVar

NM_031443.4(CCM2):c.30G>A (p.Lys10=)

Genes:

LOC129998395:ATAC-STARR-seq lymphoblastoid silent region 18162 [Gene]
CCM2:CCM2 scaffold protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 45000363 (on Assembly GRCh38)
• Chr7: 45039962 (on Assembly GRCh37)

Preferred name:

NM_031443.4(CCM2):c.30G>A (p.Lys10=)

HGVS:

• NC_000007.14:g.45000363G>A
• NG_016295.1:g.5176G>A
• NM_001167934.2:c.30G>A
• NM_001167935.2:c.30G>A
• NM_001363458.2:c.30G>A
• NM_001363459.2:c.30G>A
• NM_031443.4:c.30G>AMANE SELECT
• NP_001161406.1:p.Lys10=
• NP_001161407.1:p.Lys10=
• NP_001350387.1:p.Lys10=
• NP_001350388.1:p.Lys10=
• NP_113631.1:p.Lys10=
• NP_113631.1:p.Lys10=
• LRG_664t2:c.30G>A
• LRG_664:g.5176G>A
• LRG_664p2:p.Lys10=
• NC_000007.13:g.45039962G>A
• NM_031443.3:c.30G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1583819255

NCBI 1000 Genomes Browser:

rs1583819255

Molecular consequence:

• NM_001167934.2:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001167935.2:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363458.2:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363459.2:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_031443.4:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1