ClinVar

NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)

Gene:

ITGA7:integrin subunit alpha 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 55693209 (on Assembly GRCh38)
• Chr12: 56086993 (on Assembly GRCh37)

Preferred name:

NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)

HGVS:

• NC_000012.12:g.55693209C>T
• NG_012343.1:g.24097G>A
• NM_001144996.2:c.2656G>A
• NM_001144997.2:c.2365G>A
• NM_001367993.1:c.2317G>A
• NM_001367994.1:c.1300G>A
• NM_001374465.1:c.2626G>A
• NM_001410977.1:c.2776G>A
• NM_001414029.1:c.2638G>A
• NM_001414030.1:c.2569G>A
• NM_001414031.1:c.2557G>A
• NM_001414032.1:c.2524G>A
• NM_001414033.1:c.2461G>A
• NM_001414034.1:c.2419G>A
• NM_001414035.1:c.2305G>A
• NM_002206.3:c.2644G>AMANE SELECT
• NP_001138468.1:p.Glu886Lys
• NP_001138469.1:p.Glu789Lys
• NP_001138469.1:p.Glu789Lys
• NP_001354922.1:p.Glu773Lys
• NP_001354923.1:p.Glu434Lys
• NP_001361394.1:p.Glu876Lys
• NP_001397906.1:p.Glu926Lys
• NP_001400958.1:p.Glu880Lys
• NP_001400959.1:p.Glu857Lys
• NP_001400960.1:p.Glu853Lys
• NP_001400961.1:p.Glu842Lys
• NP_001400962.1:p.Glu821Lys
• NP_001400963.1:p.Glu807Lys
• NP_001400964.1:p.Glu769Lys
• NP_002197.2:p.Glu882Lys
• LRG_871t1:c.2644G>A
• LRG_871t2:c.2365G>A
• LRG_871:g.24097G>A
• LRG_871p1:p.Glu882Lys
• LRG_871p2:p.Glu789Lys
• NC_000012.11:g.56086993C>T
• NM_001144996.1:c.2656G>A
• NM_001144997.1:c.2365G>A
• NM_002206.2:c.2644G>A

This HGVS expression did not pass validation

Protein change:

E434K

Links:

dbSNP: rs144983062

NCBI 1000 Genomes Browser:

rs144983062

Molecular consequence:

• NM_001144996.2:c.2656G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144997.2:c.2365G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367993.1:c.2317G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367994.1:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374465.1:c.2626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410977.1:c.2776G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414029.1:c.2638G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414030.1:c.2569G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414031.1:c.2557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414032.1:c.2524G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414033.1:c.2461G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414034.1:c.2419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414035.1:c.2305G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002206.3:c.2644G>A - missense variant - [Sequence Ontology: SO:0001583]