ClinVar

NM_031443.4(CCM2):c.1A>G (p.Met1Val)

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: 45000334 (on Assembly GRCh38)
• Chr7: 45039933 (on Assembly GRCh37)

Preferred name:

NM_031443.4(CCM2):c.1A>G (p.Met1Val)

HGVS:

• NC_000007.14:g.45000334A>G
• NG_016295.1:g.5147A>G
• NM_001167934.2:c.1A>G
• NM_001167935.2:c.1A>G
• NM_001363458.2:c.1A>G
• NM_001363459.2:c.1A>G
• NM_031443.4:c.1A>GMANE SELECT
• NP_001161406.1:p.Met1Val
• NP_001161407.1:p.Met1Val
• NP_001350387.1:p.Met1Val
• NP_001350388.1:p.Met1Val
• NP_113631.1:p.Met1Val
• NP_113631.1:p.Met1Val
• LRG_664t2:c.1A>G
• LRG_664:g.5147A>G
• LRG_664p2:p.Met1Val
• NC_000007.13:g.45039933A>G
• NM_031443.3:c.1A>G

This HGVS expression did not pass validation

Protein change:

M1V; MET1VAL

Links:

OMIM: 607929.0005; dbSNP: rs137852842

NCBI 1000 Genomes Browser:

rs137852842

Molecular consequence:

• NM_001167934.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001167935.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001363458.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001363459.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_031443.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001167934.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167935.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363458.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363459.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_031443.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]