ClinVar

NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)

Gene:

CRYAA:crystallin alpha A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43172104 (on Assembly GRCh38)
• Chr21: 44592214 (on Assembly GRCh37)

Preferred name:

NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)

HGVS:

• NC_000021.9:g.43172104C>T
• NG_009823.1:g.8074C>T
• NM_000394.4:c.346C>TMANE SELECT
• NM_001363766.1:c.235C>T
• NP_000385.1:p.Arg116Cys
• NP_001350695.1:p.Arg79Cys
• NC_000021.8:g.44592214C>T
• NM_000394.3:c.346C>T
• P02489:p.Arg116Cys

This HGVS expression did not pass validation

Protein change:

R116C; ARG116CYS

Links:

UniProtKB: P02489#VAR_003819; OMIM: 123580.0001; dbSNP: rs74315439

NCBI 1000 Genomes Browser:

rs74315439

Molecular consequence:

• NM_000394.4:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363766.1:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1