ClinVar

NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197435170 (on Assembly GRCh38)
• Chr1: 197404300 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)

HGVS:

• NC_000001.11:g.197435170G>A
• NG_008483.2:g.238709G>A
• NM_001193640.2:c.2971G>A
• NM_001257965.2:c.3235G>A
• NM_001257966.2:c.2129-430G>A
• NM_201253.3:c.3307G>AMANE SELECT
• NP_001180569.1:p.Gly991Arg
• NP_001244894.1:p.Gly1079Arg
• NP_957705.1:p.Gly1103Arg
• NC_000001.10:g.197404300G>A
• NM_201253.2:c.3307G>A
• NR_047563.2:n.3260G>A
• NR_047564.2:n.3468G>A
• P82279:p.Gly1103Arg

This HGVS expression did not pass validation

Protein change:

G1079R; GLY1103ARG

Links:

UniProtKB: P82279#VAR_022974; OMIM: 604210.0011; dbSNP: rs62636275

NCBI 1000 Genomes Browser:

rs62636275

Molecular consequence:

• NM_001257966.2:c.2129-430G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.2971G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.3235G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.3307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.3260G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.3468G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]