ClinVar

NM_000394.4(CRYAA):c.327C>T (p.Tyr109=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43172085 (on Assembly GRCh38)
• Chr21: 44592195 (on Assembly GRCh37)

Preferred name:

NM_000394.4(CRYAA):c.327C>T (p.Tyr109=)

HGVS:

• NC_000021.9:g.43172085C>T
• NG_009823.1:g.8055C>T
• NM_000394.4:c.327C>TMANE SELECT
• NM_001363766.1:c.216C>T
• NP_000385.1:p.Tyr109=
• NP_001350695.1:p.Tyr72=
• NC_000021.8:g.44592195C>T
• NM_000394.2:c.327C>T
• NM_000394.3:c.327C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs79100529

NCBI 1000 Genomes Browser:

rs79100529

Molecular consequence:

• NM_000394.4:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363766.1:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]