ClinVar

NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)

Gene:

PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

• Chr6: 51748247 (on Assembly GRCh38)
• Chr6: 51613045 (on Assembly GRCh37)

Preferred name:

NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)

HGVS:

• NC_000006.12:g.51748247C>A
• NG_008753.1:g.344379G>T
• NM_138694.4:c.9369G>TMANE SELECT
• NM_170724.3:c.9369G>T
• NP_619639.3:p.Ala3123=
• NP_733842.2:p.Ala3123=
• NC_000006.11:g.51613045C>A
• NM_138694.3:c.9369G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs745523374

NCBI 1000 Genomes Browser:

rs745523374

Molecular consequence:

• NM_138694.4:c.9369G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170724.3:c.9369G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3