ClinVar

NM_001371242.2(CRYBG1):c.4002G>A (p.Pro1334=)

Gene:

CRYBG1:crystallin beta-gamma domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 106521210 (on Assembly GRCh38)
• Chr6: 106969085 (on Assembly GRCh37)

Preferred name:

NM_001371242.2(CRYBG1):c.4002G>A (p.Pro1334=)

HGVS:

• NC_000006.12:g.106521210G>A
• NM_001371242.2:c.4002G>AMANE SELECT
• NM_001624.4:c.2778G>A
• NP_001358171.1:p.Pro1334=
• NP_001615.2:p.Pro926=
• NC_000006.11:g.106969085G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001371242.2:c.4002G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001624.4:c.2778G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1