ClinVar

NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)

Gene:

CRYAB:crystallin alpha B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 111911559 (on Assembly GRCh38)
• Chr11: 111782283 (on Assembly GRCh37)

Preferred name:

NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)

HGVS:

• NC_000011.10:g.111911559G>A
• NG_009824.3:g.17164C>T
• NG_033080.2:g.3824G>A
• NM_001289807.1:c.166C>T
• NM_001289808.2:c.166C>TMANE SELECT
• NM_001368245.1:c.166C>T
• NM_001885.3:c.166C>T
• NP_001276736.1:p.Arg56Trp
• NP_001276737.1:p.Arg56Trp
• NP_001355174.1:p.Arg56Trp
• NP_001876.1:p.Arg56Trp
• LRG_407t1:c.166C>T
• LRG_407t2:c.166C>T
• LRG_407:g.17164C>T
• LRG_407p1:p.Arg56Trp
• LRG_407p2:p.Arg56Trp
• NC_000011.9:g.111782283G>A
• NG_009824.2:g.17164C>T
• NG_033080.1:g.3824G>A
• NM_001885.1:c.166C>T

This HGVS expression did not pass validation

Protein change:

R56W; ARG56TRP

Links:

OMIM: 123590.0010; dbSNP: rs387907338

NCBI 1000 Genomes Browser:

rs387907338

Molecular consequence:

• NM_001289807.1:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289808.2:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368245.1:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001885.3:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]