ClinVar

NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)

Gene:

BIN1:bridging integrator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.3

Genomic location:

• Chr2: 127050470 (on Assembly GRCh38)
• Chr2: 127808046 (on Assembly GRCh37)

Preferred name:

NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)

HGVS:

• NC_000002.12:g.127050470T>C
• NG_012042.1:g.61819A>G
• NM_001320632.2:c.1118A>G
• NM_001320633.2:c.1256A>G
• NM_001320634.1:c.1001A>G
• NM_001320640.2:c.1385A>G
• NM_001320641.2:c.1532A>G
• NM_001320642.1:c.1544A>G
• NM_004305.4:c.1208A>G
• NM_139343.3:c.1625A>GMANE SELECT
• NM_139344.3:c.1496A>G
• NM_139345.3:c.1364A>G
• NM_139346.3:c.1337A>G
• NM_139347.3:c.1400A>G
• NM_139348.3:c.1292A>G
• NM_139349.3:c.1271A>G
• NM_139350.3:c.1163A>G
• NM_139351.3:c.1073A>G
• NP_001307561.1:p.Lys373Arg
• NP_001307562.1:p.Lys419Arg
• NP_001307563.1:p.Lys334Arg
• NP_001307569.1:p.Lys462Arg
• NP_001307570.1:p.Lys511Arg
• NP_001307571.1:p.Lys515Arg
• NP_004296.1:p.Lys403Arg
• NP_647593.1:p.Lys542Arg
• NP_647594.1:p.Lys499Arg
• NP_647595.1:p.Lys455Arg
• NP_647596.1:p.Lys446Arg
• NP_647597.1:p.Lys467Arg
• NP_647598.1:p.Lys431Arg
• NP_647599.1:p.Lys424Arg
• NP_647600.1:p.Lys388Arg
• NP_647601.1:p.Lys358Arg
• LRG_873t1:c.1625A>G
• LRG_873:g.61819A>G
• LRG_873p1:p.Lys542Arg
• NC_000002.11:g.127808046T>C
• NM_139343.1:c.1625A>G
• NM_139343.2:c.1625A>G

This HGVS expression did not pass validation

Protein change:

K334R

Links:

dbSNP: rs138047593

NCBI 1000 Genomes Browser:

rs138047593

Molecular consequence:

• NM_001320632.2:c.1118A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320633.2:c.1256A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320634.1:c.1001A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320640.2:c.1385A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320641.2:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320642.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004305.4:c.1208A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139343.3:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139344.3:c.1496A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139345.3:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139346.3:c.1337A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139347.3:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139348.3:c.1292A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139349.3:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139350.3:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139351.3:c.1073A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

17