ClinVar

NM_015404.4(WHRN):c.1992G>A (p.Pro664=)

Gene:

WHRN:whirlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q32

Genomic location:

• Chr9: 114406599 (on Assembly GRCh38)
• Chr9: 117168879 (on Assembly GRCh37)

Preferred name:

NM_015404.4(WHRN):c.1992G>A (p.Pro664=)

HGVS:

• NC_000009.12:g.114406599C>T
• NG_016700.1:g.103858G>A
• NM_001083885.3:c.843G>A
• NM_001173425.2:c.1992G>A
• NM_001346890.1:c.939G>A
• NM_015404.4:c.1992G>AMANE SELECT
• NP_001077354.2:p.Pro281=
• NP_001166896.1:p.Pro664=
• NP_001333819.1:p.Pro313=
• NP_056219.3:p.Pro664=
• LRG_1094t1:c.1992G>A
• LRG_1094:g.103858G>A
• LRG_1094p1:p.Pro664=
• NC_000009.11:g.117168879C>T
• NM_015404.2:c.1992G>A
• NM_015404.3:c.1992G>A
• p.Pro664Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs142568702

NCBI 1000 Genomes Browser:

rs142568702

Molecular consequence:

• NM_001083885.3:c.843G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173425.2:c.1992G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346890.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015404.4:c.1992G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3